Oxford Handbook of Paediatrics (2 edn)
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Examination
This is the most useful tool in assessing children with neurological disorders. Nevertheless, it is neglected and often thought difficult. With a few simple tricks it is both easy and enjoyable for doctor, child and parent.
Children with mental age >4 years who can walk
Older children can undergo the full ‘adult’ neurological examination by making it a game. Pay particular attention to their:
affect;
gait and spine;
head size;
skin: neurocutaneous stigmata.
Children able to walk with a mental age <5 years
Such children can be examined by stealth, then moving onto a game. Observe the play and note:
Gait, watch how they walk, narrow/normal/wide based, heel/toe strike, walk in a straight line ‘on a tight rope’, turn quickly around (cerebellar function); symmetric or asymmetric, do they perform the Gower’s manoeuvre (assessing proximal muscle strength).
Visual acuity, hearing, speech.
Behaviour,
Movements.
Examine:
Skin, spine, and head circumference.
Co-ordination (taxis) and formation of movement (praxis) by simple games. ‘Take this bread from my hand’, ‘Pretend to open a door’.
Cranial nerves (II, III, IV, VI)
Look at the child’s eyes. Do they fix and follow?
Move an interesting toy and watch child’s eye movements. Get the child to look at you. Will they look left or right when the toy comes in from each side of their visual field? Is there a squint, is it the common type—non-paralytic—where they can move the eyes fully, but with asymmetry?
Get a carer to stand behind you and wiggle their nose. Ask the child to ‘see if you can count how many times daddy wiggles his nose’, then look at their fundi by asking them to look at daddies nose and ask him to keep the child gaze on her.
Other cranial nerves
Watch the facial movements (VII).
Say something with your hand covering your mouth and see if the child responds appropriately (VIII).
Does the child dribble excessively? Ask a carer or watch them swallow and listen to their articulation of speech (IX, X).
Children love to stick out their tongues and shrug their shoulders (XI, XII).
Neuromuscular and peripheral examination
Children who can walk, run, jump, hop, and spring up form the ground well are very unlikely to have an abnormality of the peripheral neurological system that will be identified on further examination. However, if there is an abnormality do the following.
Remove clothes as far as underwear if the child is happy.
Look at the gait. Where does the foot strike? Heel or toe? Is it waddling, asymmetrical, is there abnormality of posture?
Observe the muscle bulk and joint positions with particular reference to scoliosis, lordosis, hip flexion, ankle inversion, or eversion.
Assess the upper limbs for joint ranges, tone, and power, by having a game with the child. Laugh and keep praising them. Use an adult tendon hammer and elicit the reflexes, but place your thumb over the biceps and brachioradialis.
Have another game as you assess the same in the lower limbs.
Try to categorize the pattern into increased or decreased tone. Is it mainly unilateral; or bilateral, but mainly in the legs, or in all four limbs, and possibly the bulbar muscles?
Sensation
If indicated assess sensation by asking them to close their eyes and say ‘Luton’ every time they feel your touch. Note that children do not like closing their eyes with a stranger, so reassure them by doing it first on daddy, then with eyes open (briefly), finally with their eyes closed. Move around dermatome by dermatome, but move irregularly when you will touch them, otherwise they may say they can feel it by guessing when the next touch is likely to come.
Examination: children aged <5 years who can’t walk
Observe and note the following:
Developmental stage. Can they see, hear, or move?
Do they vocalize?
Are they dysmorphic? Are their orthoses, e.g. wheelchair, visible?
Examination
Don’t rush to get the child’s clothes off as you will frighten them. Examine the following:
Skin for neurocutaneous stigmata;
Spine;
Fundi;
Head circumference (when they like you, or at the end of the examination if you haven’t managed to break the ice).
Check for dysmorphic features.
Cranial nerves (II, III, IV, VI)
Check visual acuity. Will they fix on a small toy or large object, e.g. toy, face, bright light? If they do not fix are they pupil responses, i.e. is the child blind? Will they follow it?
Are their eyes symmetrical with a full range of movement, when following small and large toys?
Other cranial nerves.
Will they respond to a quiet, moderate, or loud sound (VIII)?
Elicit a smile, or wait to see if there is a grimace (VII).
Ask about or watch their swallow (IX, X).
Neuromuscular and peripheral examination
Observe their best motor function: antigravity movement; rolling over; lifting head up; sitting up; or pulling to stand.
Place your little fingers in their hands while lying supine. Do they have a primitive grasp reflex? Then pull them up off their bed, watching for head lag, which would imply low tone, reduced power, or both.
If child has head control, see if they can sit with or without support.
Pick them up under their armpits. Do they slip through your hands (a sign of hypotonia)?
Power: observe the movements and pattern of any paucity.
Tone: gently manipulate joints, but take care to avoid trauma.
Reflexes: use an adult tendon hammer and elicit the reflexes, but place your thumb over the tendons.
Co-ordination: if age-appropriate, assess fine motor ability by presenting an attractive target for them to take or grasp with either a primitive or pincer grasp.
Sensation is difficult to access in children with mental age <2. A clue to an abnormality may be inferred from other signs (e.g. skin, peripheral motor system).
Congenital abnormalities
There are many disorders that can affect the brain. The majority are classed as disorders of neuronal migration or cortical dysplasia and are thought to either be genetically programmed, due to gene mutation, or a disruption of foetal development due to a deleterious process between the 6th and 16th week of pregnancy, e.g. vascular or viral. They are normally associated with developmental delay, may have a cerebral palsy, and can have very troublesome epilepsies.
Investigation
This is normally initiated after an abnormality is licked up on standard MRI scan of the head. Unless the disorder is likely to have been caused by a single process, e.g. mutation in the Lis1 gene causing the majority of children with isolated lissencephaly, then it is important to perform a full examination and look for other stigmata of a genetic or acquired disorder. For example, dysmorphic features, for the former, and stigmata of infection for the latter.
Most children will benefit from exact radiological classification of the abnormality, and associated changes on examination/history, then targeted genetic investigation. If this fails, then karyotype and micro array analyses should be undertaken.
Lissencephaly ‘smooth brain’
There is absence of normal gyri on the cerebral cortex (Fig. 14.1). The children may have unusual facial appearance, difficulty swallowing, failure to thrive, seizures, and severe learning disability. Hands, fingers, or toes may be deformed. It may be associated with other diseases including, Miller-Dieker and Walker-Warburg syndromes. Where multiple genes are deleted, e.g. Miller-Dieker, then wider malformations are seen. In isolated lissencephaly, the majority will either have a change within the Lis1 gene, or it is completely lost (Miller-Dieker).
T2-weighted axial MRI images of a lissencephalic brain.
Pachygyria
Here, there is a paucity of gyri vs the absence in lissencephaly. Although milder, it is associated with a very similar range of complications and management is similar.
Heterotopia
In these disorders there is abnormal positioning of the white/grey matter (Fig. 14.2). It is more commonly used to describe abnormal migration of grey matter. It can be a single area, multiple, nodular or a band. Milder than either of the above, many children will be normal, or present later in life with events such as new onset seizures.
T2-weighted axial MRI scan, showing a isolated area of heterotopia in the right hemisphere.
Cortical dysplasias
These can occur as either a very small or large lesion. Either can be associated with learning difficulties, and especially seizures. One in particular is very well recognized—perisylvian polymicrogyria—which is associated with very troublesome seizures and bulbar difficulties. There is a particular type of cerebral palsy which primarily affects the bulbar muscles (unlike diplegias, hemiplegias and quadripleagias, where bulbar signs are normally much milder than those in the limbs. It is known as Worster-Drought syndrome.
Agenesis of the corpus callosum
Can occur as an isolated finding, or in more widespread disorders, e.g. Aicardi Syndrome. It is isolated, children may be almost normal, but as in other disorders there is a significant chance of learning difficulties, and especially seizures.
Paroxysmal episodes: not epilepsy
Up to one-third of children diagnosed with ‘epilepsy’ actually have non-epileptic events. In adolescents presenting to emergency teams in ‘status epilepticus’, over half turn out to have non-epileptic psychologically induced episodes. Think carefully about other paroxysmal episodes (such as those described below) before diagnosing a form of epilepsy and treating the child with anticonvulsants.
Aetiology
It is best to consider the cause of paroxysmal episodes according to the age of the child.
Neonates and infants
Benign neonatal sleep myoclonus: these are single or repetitive episodes of jerking of arms and legs (typically while falling asleep after a feed) and sparing the face.
Shuddering attacks.
Older infants and toddlers
‘Breath-holding attacks’ and RAS: history of suddenly going limp (or syncope), which may be followed by clonic jerking (e.g. RAS). On closer questioning at least 1 episode has been triggered by a noxious stimulus (e.g. banging head). Typically, there is a short cry and then the child goes limp, collapses to floor, and may have brief jerking movements. Other episodes are characterized by ‘blue’ breath-holding where the child starts to cry for any reason, the crying builds up, and then the child collapses to the floor at the end of expiration.
Masturbation and other gratification phenomena: when the child is bored they indulge in self-stimulation. In girls, the legs are held outstretched, and the eyes are glazed. Sweatiness almost invariably raises the possibility of a tonic seizure and these episodes are commonly mistreated as epilepsy.
Febrile myoclonus: short jerks associated with high fever.
Benign paroxysmal vertigo of childhood: acute onset of fear, nausea, vertigo, and unsteadiness if forced to walk. Rarely, the child vomits and they may have nystagmus.
Benign paroxysmal torticollis: acute episodes of head tilt, similar to the nystagmus seen in benign paroxysmal vertigo.
Night terrors: while in deep sleep, about 1–2hr after bed, the child suddenly wakes up and is inconsolable. This lasts some 10–20min and then child ‘wakes’, looks confused, rolls over, and sleeps again.
Childhood
Daydreaming
This episode can appear very similar to an absence seizure. However, the latter will occur at home during activity as well as at school. Classical absences, as part of an idiopathic generalized epilepsy (see 
p.512), can be elicited on an EEG (taken during normal and sleep deprived state) in over 95% of cases. They are short, associated with abrupt psychomotor arrest and immediate resumption of activity, speech, and thought.
Absences as part of a focal seizure disorder will only very rarely occur without some other suggestive feature such as an automatism, abnormal movement, or postictal state.
Syncope
Also known as fainting.
Occurs from age 7mths onwards. There may well be a history of precipitating events (e.g. fright, head bang, sudden standing, hair-brushing).
Often the child has an aura of loss of vision, tingling, and auditory phenomen, this is followed by loss of consciousness and posture change: falls over if standing. Not all syncopal events result in a loss of tone. In some, the fall is accompanied by increased tone.
Myoclonic jerks may follow for a few seconds. Useful tools in diagnosis include: a history of a precipitant; jerking lasting less than 20secs; and the movements may not be rhythmic.
If in doubt assume that it is syncope until there is evidence otherwise (see Psychologically determined paroxysmal events (PDPE)).
⚠ Caution If there is a history of sudden death in the family, or of syncope induced by sudden physical stress such as exercise or sleep, long QT syndrome should be investigated.
Psychologically determined paroxysmal events (PDPE)
This is a less pejorative term to describe episodes of psychological origin that used to be described as hysteria, and more recently as pseudoseizures, malingering, factitious or conversion disorders. The episodes are a psychological phenomenon, although identifying or looking for the psychological causes at time of diagnosis can be misleading or even counterproductive. There is no single event that will separate them from epilepsy. Some children rarely may even have both.
Events triggered by specific situations
Events with convulsive movements that are not explained anatomically, e.g. left arm jerking, then lull followed by right leg
Thrashing movements that wax and wane, +/− pelvic thrusting
Eyes open during the episode
Slumping to the floor in a dramatic manner. Falls without injury
Violence, rather than violent movements
Gain from the situation
Generalized movements with rapid return to normal
These features are not diagnostic. There is no never or always. In particular, young people can injure themselves and pass urine in PDPE, which are often misreported as a diagnostic feature of genuine seizures (see p.505).
Paroxysmal episodes: general management
Assessment
History
The majority of paroxysmal episodes can be classified with a careful history. No episode can be safely classified, even after EEG and MRI, if an adequate history has not been taken. Take details of the following:
First episode: when, where, what happened, and the child’s responsiveness; how long, recovery, and talk to the witness.
Subsequent episodes: situation, precipitants, duration, frequency.
Full medical history, family history, developmental and psychosocial history.
Video
If you are unsure about the diagnosis, then request the carers to take a video recording of the event. Do not investigate or treat until the diagnosis is confirmed. Children are safer off treatment, when the clinician is unsure, if the caution below is followed. Even when you are sure of the diagnosis, it is good clinical practice to request video recording of all different paroxysmal events, since the episodes or events may evolve.
Even when the diagnosis could be a non-epileptic disorder, until this is confirmed, the carers should be advised how to manage a genuine seizure. The child should avoid specific dangers:
injury from fall
proximity to swimming water without an identified lifeguard
unprotected heat
moving objects and machinery
Management
Infantile non-epileptic disorders, syncopal episodes and jerks
Allay the carers’ concerns over the diagnosis.
Psychologically determined paroxysmal events
See p.503. PDPE can be difficult to treat, but these patients do respond to well organized management. The principal areas include the following:
Unambivalent diagnosis explained to both the parent and the child/young person.
Acknowledgement/acceptance by the young person, carers and all health professionals that these are non-epileptic.
Stabilization phase where the family is developing understanding.
Strengthen coping abilities and remove gain from the behaviour.
Psychological support is essential. Some families will feel very threatened when the possibility is raised of looking at psychological issues that may have triggered these events in the child.
Seizures and childhood epilepsies
One per cent of children will have had one seizure, not associated with fever, by the age of 14yrs. The majority of these seizures will be generalized tonic–clonic episodes.
Forms of epilepsy
The two main forms of epilepsies can be categorized as having generalized or focal seizures.
Generalized seizures
These can be described as follows:
Myoclonic: with shock-like movement of one/several parts or the whole body.
Tonic: with sustained contraction and stiffness.
Clonic: with rhythmic jerking of one limb, one side, or all of the body. (See how this contrasts with the description of psychologically determined clinical events, p.503).
Tonic–clonic: a combination of the above forms.
Absence: these are episodes of abrupt psychomotor arrest lasting 5–15s in younger children, but can be longer in the older child. They can be associated with retropulsion of the head, upward deviation of eyes and eyelid, or perioral myoclonia. (You should note that facial myoclonia can be asymmetrical and give the impression of a ‘focal’ seizure).
Focal seizures
These seizures start in one area of the brain and then may spread, and ultimately generalize. If the latter part of the event is witnessed it may be described incorrectly as being primarily generalized. The semiology depends on the locality of the initial electrical activity. ‘Typical’ seizure semiology includes the following:
Occipital: multicoloured bright lights spreading from one area of homonymous visual fields.
Centroparietal: sensorimotor phenomena spreading from one limb and marching up one side of the body.
Temporal: feelings of gastric discomfort, strangeness, anxiety, memory disturbances (e.g. familiarity, ‘déjà vu’), autonomia (e.g. automatisms such as nose rubbing), and contralateral clonic or dystonic movements.
Frontal: dystonic posturing and strange guttural noises.
Status epilepticus (StE)
StE can be convulsive with tonic/clonic movements. Alternatively, it can be non-convulsive with impairment of consciousness and often subtle twitching. Technically, StE is a seizure lasting for more than 30min, or repeated seizures lasting more than 30min without recovery of consciousness in between. Practically, though, the treatment algorithm for StE can be used once a convulsive seizure has lasted longer than 5min (see pp.80–81).
Seizures: management
First unprovoked seizure
History: a full account of personal, social, and family history should be obtained.
Examination: perform a thorough examination looking for markers of neurological diseases, particularly skin and dysmorphism.
Electroencephalography (EEG): there is debate as to whether an EEG should be obtained. The current opinion is that, in most children, it is unlikely to influence management. Few specialists would start therapy at this point whatever the EEG showed. With expert neurophysiology a more accurate prognosis may be given, which in turn may influence therapy.
Imaging: MRI is not indicated after a single seizure alone. However, if abnormality is found on physical examination then MRI is very important to exclude a space-occupying lesion.
Febrile seizures
These can occur in infants or small children. Most last a minute or two, but it can be just a few seconds. Others last for more than 15min.
Typically, these children have no prior neurological disease or focal deficits on examination. Here are some key facts about febrile seizures.
They occur in up to 4% of all children, generally between the ages of 6mths and 6yrs (although it is unusual to have one’s first episode when aged >4yrs).
These children may have a temperature ≥39°C, however the temperature may have become normal by the time it is measured.
The seizure tends to occur during the first day of fever.
Children prone to febrile seizures are not considered to have epilepsy.
Recurrence risk of seizures is 35% over lifetime; 25% during the next 12mths.
The vast majority of febrile seizures are harmless.
95–98% of children who have experienced febrile seizures do not go on to develop epilepsy.
Children who have febrile seizures that are lengthy, affect only part of the body, recur within 24hr, or who have neurological abnormalities have a higher incidence of subsequent epilepsy.
Categorization
Simple febrile seizures (typical): generalized tonic–clonic activity lasting <15min with associated fever.
Complex febrile seizures (atypical): these occur in up to 15% of cases and are characterized by focal seizure activity, or prolonged seizure longer than 15min, or multiple seizures within a day.
Convulsive seizures that occur in a child with no neurological problems, in the context of an intercurrent infection, even without a recorded fever, are normally classified as febrile.
Move any danger away from the child and consider their privacy
Place the child on a protected surface on their side
It is good practice to note the time
The family should call for help if unfamiliar with febrile seizures
Then call ambulance
If the seizure lasts >10min, the child should be treated for status epilepticus
Once the seizure has ended, the child should be assessed for the source of the fever, investigated, and treated appropriately
Consider admission and observation, especially if this is the first episode
Consider meningitis if the child shows symptoms of stiff neck, extreme lethargy more than 4hr post-seizure, abundant vomiting, or is <12mths old
If there is concern perform a lumbar puncture as long as the child is not encephalopathic
There is poor evidence to support interventions to prevent febrile seizures
Parents should give standard antipyretics early in any febrile illness
Parents should get expert advice if a previous seizure lasted >10min
Epilepsies: neonatal
See also p.134. Neonatal seizures are rarely part of a benign epilepsy syndrome, expert advice should be sought.
They are more commonly a symptom of underlying, severe cerebral dysfunction.
Seizures are never generalized tonic–clonic seizures because the brain has not matured enough to produce synchronous epileptic activity.
Management
History: is there a family history of similar convulsions with benign prognosis? Take a history for cerebral insults such as hypoxia-ischaemia. Is there a relevant family history, including consanguinity?
Examination: look for neurocutaneous stigmata and dysmorphic features.
Blood investigations: FBC; CRP; blood glucose; serum electrolytes (calcium and phosphate).
Lumbar puncture: CSF glucose, red blood cell count (RCC), and white cell count (WCC); CSF microscopy and growth culture; CSF lactate and glycine; CSF latex agglutin (group B streptococci).
If no cause is evident consider the investigations for epileptic encephalopathy (see Box 14.1). Follow advice of the biochemist for further investigation or management of relevant results
Wood’s light: tuberous sclerosis
Ophthalmology: retinitis pigmentosa, phakomata, and other ophthalmological markers of neurological disorders
MRI: neuronal migration defects, structural abnormalities
U&E, urate: renal and purine disorders
Liver function tests: liver dysfunction
Ammonia: urea cycle defects and liver failure
Lactate: mitochondrial disease
Thyroid function tests: thyroid disease
Chromosomes: major structural chromosomal abnormalities
Plasma amino acid (including glycine and serine) and total homocysteine: aminoacidaemias and defects in homocysteine remethylation
Transferrin isoelectric focusing: congenital defects of glycosylation
Biotinidase: biotinidase deficiency
Carnitine profile: mitochondrial fatty acid β-oxidation defects
Plasma glucose matched with CSF glucose: glucose carrier transport deficiency
CSF lactate: mitochondrial cytopathies
CSF glycine and serine: non-ketotic hyperglycinaemia and 3-phosphoglycerate dehydrogenase deficiency
Amino and organic acids: amino and organic acidurias, sulphite oxidase deficiency, and molybdenum cofactor deficiency
Purine and pyrimidine: disorders of purine and pyrimidine metabolism
Creatine to guanidinoacetate ratio- disorders of creatine metabolism
Drug treatment
Phenobarbital: treat by loading with 20mg/kg IV. Continue on 5mg/kg once daily for at least 2wks.
Pyridoxal phosphate 10mg/kg/qds PO: if the infant is unresponsive to Phenobarbital, treat with pyridoxal phosphate. If possible wait for 48hr to assess effect.
Clonazepam: if the pyridoxal phosphate has proved ineffective or the seizures continue to give the child significant cardiorespiratory compromise, commence infusion of IV clonazepam at 5micrograms/kg/min increasing as seizures continue up to a maximum of 20micrograms/kg/min.
Epilepsies: infantile
Infantile epilepsies are challenging and expert advice should be sought.
Benign myoclonic epilepsy of infancy
This form of epilepsy requires no further investigation or therapy providing that what is observed meets the following criteria.
Myoclonic seizures only.
No other seizure type.
Normal interictal EEG.
Normal development.
West’s syndrome
The diagnosis of this condition is based on a classic triad.
Infantile spasms: short tonic contraction of trunk with upward elevation of arms; may be confused with gastro-oesophageal reflux or colic.
Developmental: delay or regression.
Hypsarrhythmia: on the EEG.
Often children have only some of these or the EEG is reported as being chaotic, with high voltage sharp and slow waves, but not ‘classical hypsarrhythmia’.
Investigations
Treatment
Children with West’s Syndrome are best cared for at home.
Step 1: 15mg* oral/tds for the first week
Step 2: Continuing seizures. Increase oral dose to 20mg*, qds
Step 3: at 14 days. Withdraw—in four steps over 15 days
* This is the complete dose, NOT per kg
Note: The child will be immunosuppressed whilst and for 2wks after therapy. Many will develop hypertension, it is useful to let the GP know the dose of nifedipine should the child become hypertensive. Some authors prefer ACTH IM injections, but evidence of its superiority is poor, and administration is more difficult
Second line therapy is with oral vigabatrin First 24hr: 25mg/kg bd, Next 2 days: 50mg/kg bd, Day 4—if there are continuing seizures— 75mg/kg, twice daily for no more than 20wks, due to the risk of visual field damage.
Severe myoclonic epilepsy of infancy
Seizures occur from the first year onwards, and include:
prolonged (>1hr) febrile and shorter afebrile seizures;
focal seizures;
atypical absences;
segmental myoclonia.
Investigations
EEG: may be normal initially, but may develop photosensitivity (i.e. within 12mths in 50%) and generalized discharges once the seizures are frequent.
Genetics: over 70% have a mutation in the SCN1a gene. However, if negative and the clinical picture is atypical, then use the screening investigations for epileptic encephalopathy ( p.509).
Treatment
The treatment should follow a sequence, adding anticonvulsants if there is no response. Lamotrigine should be avoided. The sequence is as follows:
Start with sodium valproate.
Add clobazam.
Consider stiripentol if resistant to therapy (needs expert supervision).
Myoclonic astatic epilepsy
A condition with:
myoclonic astatic seizures;
myoclonic jerks;
generalized tonic–clonic seizures.
The EEG demonstrates predominantly generalized discharges once seizures are established. Seek advice about further investigation and treat as for idiopathic generalized epilepsy ( p.513). Seizures in this condition are likely to be unresponsive, so consider using the ketogenic diet early in refractory cases.
Lennox–Gastaut syndrome
A condition with:
Tonic seizures with trunk flexion (often evolving out of infantile spasms).
Atonic seizures, myoclonic jerks, atypical absences.
Invariably there is developmental delay once the seizures are established. This condition rarely responds to drugs. Seek advice about further investigation and treat as for an idiopathic generalized epilepsy ( p.513), initially, then getting expert help.
Epilepsies: mid to late childhood (1)
Idiopathic generalized epilepsies
These epilepsies are better described as genetic epilepsies. The diagnosis of epilepsy rests on the history. The EEG helps with classification. It should be remembered that generalized discharges on EEG (particular with photic stimulation) may occur in children without seizures. There is no need for MRI or blood tests after the first episode. Seizures include combinations of:
typical absences;
myoclonia;
tonic seizures and generalized tonic–clonic seizures;
myoclonic jerks.
In these patients more than 80% of standard, and 95% of standard + sleep-deprived EEG recordings will show generalized discharges.
Myoclonic absence epilepsy
Typical absences with short symmetrical jerks of mainly the upper limbs with abduction and elevation.
Early onset <5yrs of age.
EEG demonstrates generalized discharges of 3cycles/s spike and wave, that are not well formed and, in addition, may have short bursts of polyspikes.
Poor prognosis and can deteriorate into an epileptic encephalopathy, may require treatment with the ketogenic diet.
Childhood absence epilepsy
Previously known as ‘petit mal’.
Typical absences only, but very frequent.
Present during the first decade.
Rarely develop generalized tonic–clonic seizures.
Absences can be associated with mild myoclonia, asymmetry, or automatisms.
EEG demonstrates regular bursts of 3cycles/s spike and wave.
Juvenile absence epilepsy
Onset towards the end of the first and during the second decade.
All have absences.
Up to 30% have myoclonic jerks.
Majority develop generalized tonic–clonic seizures during second decade if untreated.
EEG discharges more fragmented and irregular than in childhood absence epilepsy, with more bursts of polyspike.
Prognosis is guarded even after many years of being seizure-free as an adult, relapse is common.
Juvenile myoclonic epilepsy
Onset in the second decade.
Invariable myoclonic jerks classically within the first hour of awakening.
High risk of generalized tonic–clonic seizures, up to 80% of adolescent girls will have further generalized tonic–clonic seizures if they withdraw medication completely.
EEG may have absences and photosensitivity; discharges are more fragmented and irregular than in juvenile absence epilepsy with bursts of polyspike.
Treatment of idiopathic generalized epilepsies
First-line: sodium valproate is normally used as first-line therapy, except in childhood absence epilepsy, where ethosuximide can be considered. In girls aged >9yrs, families should be counselled that it is up to twice as likely to produce seizure freedom as other drugs. Some experts (but not others) consider it may stimulate appetite and increase the incidence of polycystic ovary syndrome. Both of which reverse on drug withdrawal. All experts agree that it is significantly more teratogenic than other anti-epileptic drugs if taken during pregnancy at a dose of more than 1000mg per day.
Second-line: lamotrigine is the next choice, but take note that it needs to be introduced more slowly when sodium valproate is being used concurrently.
Third-line: there is no consensus. Some clinicians advocate using a benzodiazepine and suggest clonazepam as the most effective. However, it is extremely difficult to withdraw if it is used in moderate to high dosage. Therefore, others advise using clobazam, topiramate, or levetiracetam.
Epilepsies: mid to late childhood (2)
Idiopathic focal epilepsies
The term idiopathic focal epilepsy, or benign focal epilepsy, is used less frequently due to the severity of the seizures in some children.
Benign childhood epilepsy with centrotemporal spikes—Rolandic Epilepsy’
The classic presentation of this condition is:
Predominantly nocturnal sensorimotor seizures.
Onset in one side of face or a hand, then spreading down one side and may generalize.
EEG may be relatively normal whilst awake.
EEG in slow wave sleep or drowsiness will develop frequent centrotemporal spike and wave discharges with an easily recognizable shape and distribution.
The majority of children with this condition have infrequent, short seizures and the decision whether to treat or not is taken after discussion with the parents and child. Some clinicians feel strongly that therapy should be the same as in idiopathic generalized epilepsy, but others will consider using carbamazepine.
Benign childhood occipital seizure syndrome (Panayiotopoulos syndrome)
Young children (aged 1–7yrs).
Bizarre seizures: prolonged (<30min), stereotyped episodes of encephalopathy often associated with ictal vomiting, headache, and eye deviation.
Often misdiagnosed.
Heterogeneous EEG abnormalities.
Good prognosis.
Treatment is rarely indicated.
Landau–Kleffner syndrome (LKS) and electrical status in slow wave sleep
These conditions are considered to be an extreme variant, marked by the following:
Intellectual regression with relatively few seizures.
Striking language impairment—an epileptic aphasia in LKS.
EEG may show non-specific abnormalities in the waking state, but once drowsy or in slow wave sleep the EEG develops electrical status.
They are difficult to treat and normally refractory to first-line drugs. Steroids are advocated and have been shown to be of temporary benefit. They may even improve long-term outcome.
Focal epilepsies
These epilepsies are symptomatic of a focal area of dysfunction, but the electrical discharges may generalize (i.e. secondary generalization).
While the electrical discharges are focal, consciousness may be maintained (previously known as simple partial seizures).
When the discharges become more widespread consciousness will be impaired or lost (previously known as complex partial seizures).
They all may develop into a secondarily generalized seizure. At that point it is not possible to classify them if the onset has not been witnessed.
Their expression will depend on the principally affected area of the brain.
Frontal lobe epilepsies
These children tend to have short, but frequent seizures—particularly arising out of sleep. They are often associated with asymmetric dystonic posturing and brought on by loud noises. Recovery can be quick and they may be difficult to assess on the EEG.
Temporal lobe epilepsies
The seizures affect memory and emotion with disturbances such as ‘déjà vu’, fear, abdominal discomfort, and automatisms.
Occipital lobe epilepsies
These episodes are associated with simple multicoloured blobs of light in one side of a visual field. They often produce headache and vomiting.
Management of focal epilepsies
Investigation
MRI is always indicated.
Children rarely have malignant brain tumours. However, they can have dysplasias, gliosis, and benign tumours. The temporal lobe may show hippocampal sclerosis.
Treatment
First-line: carbamazepine is generally recommended.
Second-line: therapy is widely debated. There are few good studies comparing anti-epileptic drugs against each other. However, sodium valproate is a logical choice amongst the older anticonvulsants (but not in girls >9yrs of age). Of the newer anticonvulsants, lamotrigine, topiramate, and levetiracetam could be used, but licensing conditions should be noted.
Headache
Children with headache are commonly referred to general paediatricians.
Over 90% will have chronic childhood headache, with no identifiable physical cause.
Some have migraine.
Chronic, tension type headache
This form of headache is:
regular;
often frontal;
not associated with vomiting, paraesthesia, visual disturbance, or abnormality on examination (including BP).
History
The headache may be reported to be severe enough to take time off school, but with few objective signs of pain. A full history is important, not only to exclude migraine and symptoms of raised ICP, but also to elucidate stresses that may be causing the headache or gains the child may have from the behaviour. It should be assumed to be chronic if present for more than 6wks.
Treatment
Reassure the family that, with the thorough history and examination, migraine and tumours can be excluded.
It is inappropriate to perform either a CT or an MRI scan.
Sympathize with the family over the problem and suggest analgesia, but at best it is likely to make no difference. Therefore dosage and number of drugs should be reduced to the minimum acceptable. Encourage the child or young person to continue doing all the normal activities for somebody of their age. ‘I can’t take away the headache, but the more normal things you do and the fewer drugs you take, the less you will notice the pain’.
Raised ICP
This is a potent cause of headache and will be associated with either or both of the following:
Abnormal examination: in particular, heel–toe walking, finger–nose co-ordination, eye movements, and fundi (i.e. papilloedema).
Severe short history: vomiting, morning headache, visual disturbance.
Clinically, the main concern is a mass obstructing CSF flow, particularly a malignant posterior fossa tumour. Therefore the children need expert opinion on neuroimaging as soon as possible. MRI superior, but CT head is performed if MRI not immediately available.
However, the ICP can be raised without abnormality evident on CT scan. In some of these children there may be thrombosis of a cerebral sinus. Therefore, MRI and MRV are recommended.
A subgroup has raised pressure of unknown cause—idiopathic intracranial hypertension, where the only sign on examination will be papilloedema +/− reduced visual acuity, with normal cranial imaging, except for the lateral venous sinuses, which can look compressed.
Idiopathic intracranial hypertension (IIH)
IIH or benign IH or pseudotumour cerebri typically is associated with obesity, female sex, and adolescence. It is important to exclude secondary cases caused by:
Drugs: steroid withdrawal; vitamin A; thyroid replacement; oral contraceptive pills; phenothiazines.
Systemic disease: iron deficiency; Guillain–Barré syndrome; systemic lupus erythematosus.
Endocrine changes: adrenal failure; hyperthyroidism; hypoparathyroidism; menarche; pregnancy; obesity.
Head injury.
History
Early morning headache blurred or double vision, vomiting.
Examination and investigation
General: check BP.
Neurology: there may be ataxia.
Eyes: papilloedema; scotoma on visual field testing.
Imaging: normal.
Lumbar puncture: raised ICP (>20cm CSF); normal CSF cell count, protein, and glucose.
Management
Weight loss in the obese.
Try and remove the causal medication.
Diuretics: to reduce CSF formation (e.g. acetazolamide, furosemide).
Steroids: may be effective, but can cause rebound problems when withdrawn.
Serial lumbar punctures or surgical intervention.
Monitoring of eyes and visual fields: most patients without visual deficit do well, but some patients with eye problems may deteriorate.
Headache: migraine
Up to 10% of children may have migraine. These are debilitating episodes and the criteria are listed below. If they occur frequently (more than 4 times per month for more than 3mths), the diagnosis is unlikely. If the headache occurs daily then the term chronic headache should be used and managed as described on p.516.
Treatment
Exclude triggers: such as diet, dehydration, overtiredness, and stress.
Paracetamol and domperidone: these can be tried initially, at the onset of symptoms, as they will treat the headache and nausea.
Prophylaxis : if the migraine is frequent enough to disrupt schooling or social activity, then consider prophylaxis. The evidence-base for different therapies is poor. Initially try a 3mths trial of pizotifen. If this is not effective, then try propranolol. Antidepressants such as amitriptyline have also been used. Sumatriptan may be used in children older than 12yrs at the onset of symptoms, if other treatments are ineffective.
A At least 5 attacks fulfilling B–D
B Headache attack lasting 1–48hr
C Headache has at least two of the following:
Bilateral (temporal or frontal) or unilateral location
Pulsating quality
Moderate to severe intensity
Aggravation by routine physical activity
D During headache, at least one of the following:
Nausea and/or vomiting
Photophobia and/or phonophobia
A Idiopathic recurring disorder: headache that usually lasts 1–48hr
B At least two attacks fulfilling C
C At least three of the following:
One or more fully reversible aura symptoms indicating focal cortical and/or brainstem dysfunction
At least one aura developing gradually over >4min, or two or more symptoms occurring in succession
No aura lasting >60min
Headache follows in <60min
Bell’s palsy
Acute paralysis of the muscles of facial expression may be unable to close the eye on the affected side.
Normally unilateral, but may be bilateral lower motor neuron lesion.
2° to oedema of the facial nerve as it passes through the temporal bone.
Aetiology
Idiopathic.
Varicella and other viruses.
Borrelia burgdorferi (Lyme disease), particularly if bilateral.
Examination
Check: whether other branches of the facial nerve are affected, e.g. hyperacusis.
Full systemic examination: in particular, look for signs of leukaemia and vasculitides.
Full neurological examination: look for other signs, the presence of which would exclude an idiopathic Bell’s palsy.
Investigation
FBC and film (leukaemia).
Varicella titres.
Borrelia investigation, in suspicious cases, only after discussion with microbiology as this is a difficult infection to either refute or confirm.
Treatment
Steroids: evidence for the use of steroids is limited, but the general opinion is to use 2mg/kg (maximum 60mg) prednisolone, once daily for 5 days if the symptoms are less than 7 days old.
Aciclovir: recent evidence indicates that oral aciclovir (40mg/kg/day) for 10 days, irrespective of varicella status, may be useful.
Prognosis
Most children will either recover fully or recover to a good degree. When this does not occur after 6mths, referral for facial nerve grafting is appropriate.
Acute disseminated encephalomyelitis
ADEM is an immune mediated disease. It usually occurs following a viral infection, but may follow other infections or vaccination. It involves autoimmune demyelination, it is similar to multiple sclerosis- although monophasic. ADEM produces multiple inflammatory lesions in the brain and spinal cord, particularly in the white matter. Usually these are found in the subcortical/central white matter and cortical gray-white junction of both cerebral hemispheres, cerebellum, brainstem, and spinal cord, but other areas including the basal ganglia may also be involved.
Presentation
The average age around 5–8yrs old.
Abrupt onset and a monophasic course.
Symptoms usually begin 1–3wks after infection or vaccination and include fever, headache, drowsiness, coma, and seizures.
Average time to maximum severity about four and a half days.
Additional symptoms include hemiparesis, paraparesis, and cranial nerve palsies.
Diagnosis
This is based on finding typical changes on MRI- as above in the subcortical/central white matter, cortical gray-white junction, cerebellum, brainstem, and spinal cord. The basal ganglia may also be involved (Fig. 14.3). CSF may show a mild lymphocytosis, with normal glucose, but there may be a mild rise in protein.
MRI head scan of child with ADEM on FLAIR sequence, which shows the subcortical/central white matter, cortical gray-white junction lesions well.
Treatment
It is important to exclude other causes of encephalopathy ( pp.72–79, 552). Then supportive measures such as hydration/feeding, bulbar function and respiration should be instituted. Pulsed intravenous methylprednisolone is widely recommended as definitive treatment, and is normally associated with improvement within days.
ADEM may relapse once or twice, it is then called M(ultiple)DEM.
Multiple Sclerosis rarely occurs in childhood, but becomes more common as children approach adulthood. It presents with demyelinating plaques, which differ from ADEM in their distribution- more periventricular white matter, and with much less encephalopathy, seizures, and coma, but more focal neurological signs.
Stroke in childhood
Cerebrovascular stroke—although commonly presenting with congenital hemiplegia—is rare in childhood, but it does cause significant morbidity. The cause can be arterial-ischaemic, haemorrhagic, or venous in origin. The majority of cases will have a likely cause identified on history and/or examination. The main causes are:
sickle cell disease;
congenital cardiac defects;
cerebral infection;
trauma (arterial dissection).
Management
Children with stroke will need initial attention to ABC (see p.46) and treatment of acute conditions such as mastioditis/meningitis before early transfer to a specialist unit.
Investigation
Once stable all children will require brain imaging—preferably magnetic resonance imaging and angiography of both cerebral and neck vessels, rather than CT scan (although CT will show the distribution of injury and exclude haemorrhage). Even with a known cause such as trauma, all children require screening for underlying thrombophilia as these conditions may co-exist. If there is no obvious cause then the investigations in the box should be considered.
Treatment
After stabilization, acute treatment should be undertaken in a specialist centre. Subsequent management, although acute, would be undertaken with the same team and aims as that outlined for cerebral palsy.
FBC, ESR: polycythaemia
Thrombophilia screen, fibrinogen: thrombophilia
Electrolytes, magnesium
Liver function tests
CRP: inflammation
Plasma lactate and CSF lactate: mitochondrial disorders
Fasting glucose: diabetes
Fasting lipid screen: hyperlipidaemias
Thyroid function tests: Hashimoto thyroiditis/encephalopathy
Ammonia: urea cycle disorders
Homocysteine (free and total): methyltetrahydrofolate reductase (MTHFR) deficiency can also be picked up by common mutation analysis on the thrombophilia screen, and if symptomatic has a raised plasma homocysteine
Serum iron, total iron binding capacity, ferritin, red cell folate, and vitamin B12: iron deficiency and other nutritional disorders
Plasma amino acids: aminoacidurias
Carnitine (acyl, free, and total): β-oxidation defects
Urine organic and amino acids: homocystinuria, MTHFR deficiency
IgG, IgM, IgA: immunodeficiency
Titres for infection screen of: Mycoplasma, Chlamydia, Helicobacter, Borrelia, Brucella; viruses (echo, Coxsackie, Epstein–Barr, Varicella, hepatitis B)
ASOT, Anti DNAase B: streptococcal disease
ANA, ANCA, anticardiolipin and antiphospholipid antibody: SLE and autoimmune disease
Magnetic resonance imaging and angiography of head/neck: vascular disease, particularly dissection and thromboembolism
Echocardiogram: endocarditis and other cardiac disease
Acute abnormal movements
Ataxia
An abnormality in gait that is wide-based, staggering, and unsteady may have a number of causes including:
Posterior fossa tumours.
Inborn errors of metabolism.
Poisoning.
Brainstem encephalitis.
Post-infectious or autoimmune: acute cerebellar ataxia.
Trauma.
Vascular disorders.
Congenital malformations: Dandy–Walker.
Neurological: olivopontocerebellar degeneration, ataxia–telangiectasia (at), adrenoleucodystrophy, Friedreich’s ataxia (FrA).
Conversion disorders.
Clinical review
Speech: increased separation of syllables and varied volume—scanning speech.
Neurology: sensory disturbance in proprioception, positive Romberg, nystagmus with eye movement.
Systemic: immunodeficiency in AT; hypertrophic cardiomyopathy and diabetes in Fanconi’s anaemia (FA).
Investigation
Cerebral imaging, if cause not found plasma and CSF analysis for the above, with particular reference to assessing for varicella, streptococcal and other infections, and for inborn errors of metabolism, e.g. urea cycle disorders.
Chorea
Jerk-like movements may involve the face, arms, or legs. In childhood the causes include:
Drugs: anticonvulsants, psychotropics, benzodiazepine withdrawal after intensive care.
Systemic illness: Sydenham’s chorea, SLE, hyperthyroidism.
Genetic: Huntington’s chorea, glutaric aciduria and other inborn errors of metabolism, benign familial chorea.
Other: pregnancy.
Streptococcal infection
Sydenham’s chorea is often associated with streptococcal infection. It occurs in older children particularly girls. It is frequently misdiagnosed as being psychogenic, particularly as it may be associated with emotional liability. It is characterized by the onset of a mild to moderate chorea (may be unilateral) that is more distal, in a well child (possibly with recent infection).
About 20% of rheumatic fever cases include chorea.
Treatment: high-dose penicillin V 500mg, oral, bd., for 10 days; then daily prophylaxis.
Sodium valproate is the first line treatment, if inborn errors of metabolism are unlikely, as it can cause metabolic decompensation.
Benzodiazepines, phenothiazine, haloperidol may control the movement.
Improvement may occur over weeks to months.
Paediatric autoimmune neuropsychiatric disorder associated with streptococcus (PANDAS)
PANDAS has specific diagnostic criteria and is accompanied by behavioural problems, e.g. obsessive–compulsive disease and tics. There is some debate as to whether it represents a separate entity.
Conversion or ‘psychologically mediated’ disorders
A high percentage of children older than 7yrs who present with rapidly progressing and bizarre neurological symptoms, with no sign of systemic illness, and retained consciousness have a conversion disorder. These children are more likely to be teenage girls. However, it is important that this fact should not prejudice your clinical assessment—major oversights and mistakes can be made. These children tend to be well and have signs that cannot be explained anatomically, e.g. paralysis of one leg and the contralateral arm, sensory disturbances that do not fit a typical neuropathy, and visual phenomena.
The initial diagnosis should be that of a genuine physical disorder until all assessments (medical, psychological, and social) are complete.
⚠ Examination must be thorough. You may reveal inconsistent signs such as an inability to lift the leg off bed, but the child is able to walk across the room. Video can be very helpful, especially if a second opinion is needed/the signs intermittent.
Investigation
These should only be undertaken if clinically indicated, as there is a risk of a false positive
Imaging
Sophisticated imaging is at the physician’s discretion, but the family is likely to become very distressed if a psychological diagnosis is given while there are outstanding investigations. Therefore correlate all the relevant information, decide if it is either psychological or a physical disorder. If unsure refer for expert opinion.
Treatment
Subdural haemorrhage in a child under 2 years
Children under 2yrs presenting with subdural haemorrhage (SDH) are an important cause of morbidity and mortality. A significant number will have been caused by purposeful, inflicted, trauma, as part of an acceleration/ deceleration injury. In the investigation of non-accidental head injury (NAHI) it is important to differentiate inflicted injury and other causes of SDH. This section aims to help doctors and other staff thoroughly investigate the child presenting with SDH.
This section assumes that the child is stable clinically (airway, breathing, circulation) and relevant teams are being contacted for further opinions.
The investigations will take at least a week to perform, therefore there is no ‘hurry’ to produce definitive report/guidance for other professionals until results are available.
Do not use the term ‘shaken baby syndrome’. Shaking is a possible mechanism of injury, and not a syndrome, and should be considered in the context of other mechanisms of non-accidental head injury.
NAHI is a leading cause of death and disability in children, particularly if cerebral injury is part of the spectrum of damage. Bleeding from torn bridging veins into the subdural space is the hallmark of non-accidental head injury. When infants who developed a SDH after infection or neurosurgical intervention are excluded, in retrospective studies, 24–82% of cases with SDH were highly suggestive of abuse in different series.
Differential diagnosis of SDH
Trauma, traumatic labour.
Neurosurgical complications, cranial malformation (aneurysm, arachnoid cyst).
Cerebral infections.
Coagulation and haematological disorders.
Metabolic (glutaric aciduria, galactosaemia).
Biochemical disorders (hypernatraemia).
Symptoms/signs of acute SDH
Encephalopathy (irritability, crying, inconsolability, unsettled behaviour, lethargy, meningism, decreased or increased tone, seizures, impaired consciousness).
Vomiting, poor feeding.
Breathing abnormalities, apnoea.
Pallor, shock.
Tense fontanelle.
Early post-traumatic seizures occur more frequently in inflicted than in non-inflicted head injury.
Symptoms/signs of subacute or chronic SDH
Expanding head circumference.
Vomiting, failure to thrive.
Neurological deficit/s.
Retinal haemorrhages (‘haemorrhagic retinopathy’)
Although strongly associated with NAHI, retinal haemorrhages are not specific for the diagnosis, nor can they be dated with precision. In NAHI haemorrhagic retinopathy can typically affect all retinal layers. It shows different ages and stages of resorption. It can be found throughout the retina to the ora serrata.
Vitreous haemorrhage is frequent.
Retinal haemorrhage may be unilateral or asymmetric in terms of number and distribution, however, some victims have none at all (15–25%). In severe life threatening trauma (motor cycle, great height) retinal haemorrhage is found in less then 3%. Retinal haemorrhages in newborns are seen in vacuum-assisted deliveries in up to 75% and in spontaneous vaginal deliveries in up to 33%. They resolve by 2wks after birth, at the latest by 6wks, in the great majority. A consultant ophthalmologist with expertise in the assessment of the eyes in children suspected to have NAHI should examine the child.
Fractures
Since skull fractures may be missed by bony windows on CT, a plain skull film should be obtained.
Skull fractures do not heal by callus formation and so dating of an injury is especially difficult. If the edges are round and smooth it is likely to be more than 2wks old.
If the skull fracture is depressed or has branching, crossing, or stellate fracture lines, it is highly suggestive for NAI, whereas accidental fractures typically are linear, parietal, and over the vertex.
The typical non-skull fracture of child abuse is the metaphyseal fracture caused by twisting the limb. It can also occur from birth injury (e.g. breech extraction). The ‘bucket handle’ and ‘corner’ type metaphyseal fractures are very suggestive for NAI. It is very important to target X-ray imaging on the metaphyses, as wider imaging can miss fractures (see pp.758, 923, 1000).
Brain imaging
The initial investigation is likely to be CT, but MRI will also be necessary in most cases (Fig. 14.4).
MRI is more sensitive in identifying SDH’s of different signal characteristics, posterior and middle cranial fossa bleeds, and parenchymal changes in the brain.
CT scans may miss small subdural bleeds. Blood along the tentorium, interhemispheric haemorrhages, and SDHs in multiple sites or of different densities were almost exclusively seen in NAI. While acute haemorrhage may be isointense with brain on T1-weighted images, acute or subacute blood is more likely to be moderately hyperintense on these sequences.
T2-weighted sequences may also show high intensity, although this may be difficult to separate from the adjacent signal in CSF. The FLAIR sequence suppresses the signal from normal CSF, allowing the high signal haemorrhage to be visualized.
In the early acute stage when the blood clot is solid it may not be impressive. However, as it breaks down by fibrinolysis and water is drawn into the haematoma a marked effusion may become visible. Due to the dynamic changes of pathology sequential brain imaging is recommended in order to capture the evolution of different lesions. Within 2–4wks contusions and tears are at their most prominent.
Encephalomalacia may be apparent and even early atrophy. By 2–3mths atrophy is well established. Areas of contusion and hypoxia-ischaemia have evolved into cysts, and SDH should be clearing.
A neuroradiologist with experience in NAHI should report/review all scans.
CT head scan of subdural haemorrhage, overlying right frontal lobe, but extending posteriorly and along the falx. Highly suggestive of NAHI. This child also had extensive retinal haemorrhages and was found to have fractures consistent with inflicted injury on skeletal survey.
Coagulation and haematological disorders
For the exclusion of thrombocytopenia, anaemia and malignancy: do platelet count, FBC and blood film. Renal and liver function tests rule out these acquired coagulation defects.
The ‘coagulation screen’ comprises of PT, APPT, Thrombin time, Fibrinogen and ‘Mixing studies’ (50:50 mix) to exclude inhibitor.
Factor assays are available for factor II, V, VII, VIII, IX, XI, and ‘von Willebrand`s disease’. An α 2 antiplasmin deficiency is diagnosed by a thromboelastogram (TEG). Platelet function disorders, vitamin C
deficiency, Factor XIII, and collagen disorders are extremely difficult to diagnose in a child under 2yrs and are very rare conditions.
Therefore, investigations for these disorders should only be done after discussion with Paediatric haematologist, and on good clinical grounds.
Glutaric aciduria type 1 (GA1)
The exclusion of GA1 is fraught with difficulty. The best approach is to obtain the urine and blood, however, to delay further investigation until other investigations are back. As an example, if the child has multiple fractures, or malicious injuries these would not have been caused by GA1. In such an instance the investigations for organic acids, acylcarnitines, or even a skin biopsy are inappropriate.
Management
Take full social, medical, family history, including report from social services and police on all adults in household/caring for child.
CT head and MRI head/spine when possible.
Skeletal survey.
Clotting assessment (see Coagulation and haematological disorders, p.528).
Take urine to store in case of need to check organic acids.
Arrange ophthalmology assessment.
Unless sure that there has been accidental trauma, arrange a full conference around the child with relevant professionals, including social services, who may invite police attendance (their responsibility). Remind them: the investigations will take at least a week to perform, therefore there is no ‘hurry’ to produce definitive report/guidance for other professionals until results are available.
Neurocutaneous disorders
Tuberous sclerosis complex (TSC)
TSC is an autosomal dominant inherited disorder affecting brain, skin, heart, kidney, eye, and lung.
The disorder is caused by haematomata affecting the above organs, although other neoplasms also occur.
Two genes have been identified: TSC 1 and 2. About 1/3 of cases are inherited, the others de novo mutations.
T2-weighted MRI scan of the head showing multiple sub-ependymal nodules, lining the walls of the ventricles.
The diagnosis is made when a child has either 2 major, or 1 major and 2 minor criteria.
| Major criteria | Minor criteria |
|---|---|
• Facial angiofi bromas | • Pits in dental enamel |
• Ungual fi broma | • Rectal polyps |
• Hypomelanotic macules (>3) | • Bone cysts |
• Shagreen patch | • Cerebral white matter ‘migration tracts’ |
• Subependymal (subE) nodules | • Gingival fi bromas |
• subE giant cell astrocytoma | • Non-renal haematoma |
• Retinal nodular haematoma | • Retinal achromic patch |
• Cardiac rhabdomyhomata | • Confetti skin lesions |
• Multipale renal cysts |
| Major criteria | Minor criteria |
|---|---|
• Facial angiofi bromas | • Pits in dental enamel |
• Ungual fi broma | • Rectal polyps |
• Hypomelanotic macules (>3) | • Bone cysts |
• Shagreen patch | • Cerebral white matter ‘migration tracts’ |
• Subependymal (subE) nodules | • Gingival fi bromas |
• subE giant cell astrocytoma | • Non-renal haematoma |
• Retinal nodular haematoma | • Retinal achromic patch |
• Cardiac rhabdomyhomata | • Confetti skin lesions |
• Multipale renal cysts |
Management
Treatment is symptomatic depending on the organ-specific effects of the haematoma and neoplasms. All cases require expert assessment:
Recurrence risk in family members.
Symptomatic epilepsies, particularly if West syndrome occurs.
Cardiac rhabdomyomata need to be referred to cardiology support, but if echo/ECG is normal, then they can be discharged as these do not develop postnatally.
Renal complications are very rare * under 9yrs, but after this bi-annual renal ultrasound with regular enquiry for renal function/loin pain is needed. Polycystic kidney disease can occur if there is contiguous deletion of the neighbouring gene.
Pulmonary lymphangiomatosis occurs very rarely in childhood, and only in girls. Regular screening is not indicated, unless a history given of respiratory symptoms.
Ophthalmological haematomata need to be referred to ophthalmology. If fundi are normal, patients can be discharged as these lesions do not develop post-natally.
Neurofibromatosis
NF1: chromosome 17
The diagnosis is based on having at least 2 of the following:
>6 café au lait macules: >5mm diameter before puberty; >15mm diameter after puberty.
Skin fold or axillary freckling.
1 Neurofibroma or a plexiform neurofibroma.
1 Lisch nodule in iris.
Optic glioma.
Skeletal dysplasia.
Affected first-degree relative.
The management of this condition is symptomatic and depends on the local effects of the neurofibroma. However, all cases require expert assessment of:
recurrence risk in family members (they need assessment annually);
neoplasia and optic gliomata;
renal artery stenosis;
skeletal dysplasia;
cognitive performance.
NF2: chromosome 22
The diagnosis is based on having 1 major or 2 minor criteria.
Major criteria:
unilateral vestibular Schwannoma and first-degree relative with NF2;
bilateral vestibular Schwannomas.
Minor criteria:
meningioma;
Schwannoma;
ependymoma;
glioma;
cataract.
The management of NF2 is complex as the tumours themselves do not need to be removed when identified in many cases, although they may be symptomatic.
Sturge–Weber syndrome
Leptomeningeal angiomatosis: associated with a port wine naevus in the distribution of the first branch of the trigeminal nerve.
Children may be very well, but can have severe focal epilepsies, learning disability, hemiplegia, glaucoma, and transient stroke-like episodes, and severe headaches.
Diagnosis: on facial appearance and CT ± MRI scan.
Macrocephaly and microcephaly
Macrocephaly
Macrocephaly is defined as a head circumference above the 99.6th centile. The majority of such children will have a benign and familial cause for this condition. However, hydrocephalus and degenerative disorders need to be considered.
History
Take a full history including developmental progression.
Are there any features of autism or degenerative disorders?
Are there signs of raised intracranial pressure?
Examination
Perform a thorough examination.
Plot OFC on a growth chart along with previous measurements.
Look at the skin for signs of neurofibromatosis (see p.836).
Findings and investigation
Abnormal: if there are any abnormalities these will need further investigation.
Normal: if the examination is normal, try and compare the child’s head circumference with parental head circumferences. If they are all large, then the likely diagnosis is familial macrocephaly. If the parents’ head circumferences are normal, then the child’s condition is probably benign, but it would be appropriate to follow measurements for the next 12mths. If there is crossing of centiles then perform a CT scan, looking for hydrocephalus.
Microcephaly
See also p.171. Microcephaly is defined as a head circumference below the 0.4th centile. It is associated with a small brain. The majority of these children will have developmental and neurological abnormalities.
History
Take a full history including developmental progression and infection during pregnancy.
Was Guthrie screening done (phenylketonuria)?
Examination
Perform a thorough examination.
Plot OFC on a growth chart along with previous measurements.
Look for features of craniosynostosis—spiral CT head if likely.
Investigation
Repeat PKU screening.
Obtain a karyotype, plasma lactate, maternal and child’s TORCH infection screen, plasma and urine for amino and organic acidaemias.
MRI scan.
Management
Obtain genetic advice.
There may be a recurrence risk of up to 25% (autosomal recessive microcephaly) if no cause is found.
Hydrocephalus
See also p.170. Hydrocephalus may be present irrespective of whether there is obstruction to cerebrospinal fluid flow. The causes are:
Obstructive (non-communicating): aqueduct stenosis, posterior fossa and other tumours.
Communicating: meningitis, subarachnoid haemorrhage, IVH.
Clinical features
History: older children may present with a history of headache and vomiting; babies usually present because there is concern about head growth (i.e. crossing centiles) and delay in development.
Examination: plot OFC on a growth chart along with previous measurements; macrocephaly or bulging fontanelle in those with open sutures; ‘sunsetting’ of the eyes; papilloedema; hyperreflexia; spasticity; poor head control.
Diagnosis: cranial imaging looking for enlarged ventricles. Imaging may also reveal associated congenital abnormalities such as Arnold–Chiari malformation.
Treatment
Neurosurgical referral for placement of ventricular shunt system or other surgery urgently.
Children with shunt systems in place are at risk of shunt blockage, infection (e.g. ventriculitis), and subdural haematoma. Acute changes in behaviour, new onset headache, or persistent fever will need to be assessed with these problems in mind. Again, referral to the neurosurgical team for imaging and CSF sampling will need to be carried out.
Degenerative disorders
There are many disorders that can present with developmental regression, that is, ‘loss of skills’ and/or neurological deterioration, i.e. developing new neurological signs, or progressive intellectual deterioration. These signs always require intensive investigation.
History
Full developmental history: try and exclude autism.
Family and social history: with particular emphasis on consanguinity.
Medical history: check for other organ involvement—eyes, hearing, cardiac, endocrine, respiratory, viscerae.
Examination
All systems: storage disorders often involve other systems besides the brain, particularly face and viscera.
Neurological examination: this must be thorough. Look particularly for evidence of ataxia, myoclonus, dementia, dystonia, and pyramidal signs.
Investigations
Axial FLAIR sequence MRI head of a boy with adrenoleukodystyrophy showing dramatic signal in the posterior white matter bilaterally, during the acute deterioration seen in this condition.
U&E: renal failure
Liver function tests: liver disease
Plasma glucose and matching CSF glucose: glucose carrier transport (GLUT1) deficiency
Plasma lactate and matching CSF lactate: mitochondrial cytopathy
Ammonia: urea cycle defects
Thyroid function tests: thyroid disease
Urate: Lesch–Nyhan disease and purine disorders
Plasma amino acids: aminoacidopathies
Very long chain fatty acids: peroxisomal disorders
Copper level: Menkes disease
Caeruloplasmin: Wilson disease
Vacuolated lymphocytes: Batten’s disease and other storage disorders
WBC enzymes including Batten’s enzymes: lysosomal storage disorders and Batten’s disease
Amino and organic acids: organic acidurias, MTHFR deficiency, sulphite oxidase deficiency
Urate, creatinine, purine, and pyrimidine over 24hr: Lesch–Nyhan, purine/nucleotide phosphorylase deficiency
Hydroxybutyric acid: succinate semialdehyde dehydrogenase deficiency
Mucopolysaccharides: mucopolysaccharidoses
Liver: Alper’s disease
Skin (choelesterol esterification): Niemann–Pick type C
Muscle: mitochondrial disease
Rectal: Batten’s disease
Ophthalmology review: retinitis pigmentosa and other ophthalmological markers of neurological disorders e.g. cherry red spots
Visual evoked responses: Batten’s disease
EEG: status epilepticus and regular spike wave discharges (e.g. progressive myoclonic epilepsies, such as lafora body, gangliosidoses)
Neuromuscular disorders
An example of a motor neuron.
Cerebral insult
Any brain insult may make a child unreactive and move less. In these children there may be obvious signs of cerebral dysfunction such as encephalopathy. Facial movement and peripheral power are good if the child is able to follow commands. However, they may have low tone in the trunk, with relatively better tone at limb extremities. Good examples are Down or Prader-Willi syndromes. Reflexes should be present. If there is damage to the upper motor neuron then there will be spasticity with increased tone and brisk reflexes, e.g. cerebral palsy.
Spinal cord lesions
Spinal tumours and transverse myelitis should produce a rough level, beneath which there will be upper motor neuron signs or a sensory level or both. Spinal cord tumours are normally associated with a number of signs including constipation and urinary symptoms. There are particular signs which should always be investigated.
Neurological signs, particularly when objective, e.g. hypereflexia and paresis, at a level beneath C1
Back pain with no other signs in children under 11yrs
Change in urinary function or bowel habit with back pain in older children
Transverse myelitis
Quick onset (i.e. in days and sometimes hours) of weakness, and/or anaesthesia, and/or urinary dysfunction, and/or bowel disturbance, often within a week of a minor viral infection. It may be associated with back pain. Although later on there will be upper motor neuron signs, where there is an acute presentation, there may be reduced reflexes and power for the first days. However, where the weakness continues there will be a gradual increase in the reflexes and tone. Urgent imaging of the cord by spinal MRI with gadolinium required to exclude cord compression, and in many cases will confirm appearances of myelitis.
Management
Immediate admission for monitoring of respiratory status (use FVC; see p.49). Review for urinary and GI disturbance. Feeding/swallowing assessment.
Early introduction of physiotherapy and occupational therapy to avoid joint contracture.
Control of pain.
Methylprednisolone: IV treatment (30mg/kg, given over a period of at least 30min for 3 days) normally used initially, if no response consider other immune-modulatory therapy.
Anterior horn cell disorders
Disorder here produces flaccid, areflexic limb, normally sparing the face.
Polio
Now rare. May still be seen following vaccination, or in immigrants.
Long-term, the limb becomes flaccid and wasted.
Spinal muscular atrophies
See also p.945. Confirmation of these conditions includes fibrillation on EMG and homozygous deletion of survival motor neuron (SMN) gene.
Type 0 (neonatal form): very severe, often with arthrogryposis.
Type 1 (Werdnig–Hoffman): severe with onset in the first months of life. Typically, there are ‘bright eyes’, severe hypotonia, ‘frog-like posture’, areflexia, and weakness that is present more in the legs than arms. Normally fatal by 2yrs of age.
Type 2: onset in the first years of life with low tone, peripheral weakness, absent reflexes, and scoliosis.
Type 3: adolescent onset with progressive weakness and gait disturbance, loss of reflexes, and low tone.
These disorders will have similar DNA results, so do not make a prognosis on the basis of the DNA result. They are very complicated, and will need to be reviewed by specialists, with reference to:
An accurate prognosis based on clinical assessment.
Advice on appropriate therapies e.g. invasive ventilation for type 1.
Multidisciplinary support for occupational, physio and speech therapies, as well as dietary, respiratory, neurological, psychological and social support.
Peripheral neuropathies
Charcot–Marie–Tooth disease (hereditary motor and sensory neuropathies)
This refers to a group of disorders with mainly autosomal dominant inheritance:
The hallmark is progressive distal weakness, initially presenting in the lower limbs with peroneal muscle weakness and atrophy.
Also there is clumsiness and loss of fine motor control.
Later, these patients develop sensory disturbances with pins and needles in a glove and stocking distribution.
The most common types are:
Type 1: demonstrates reduced conduction velocities on nerve conduction studies due to demyelination.
Type 2: near normal nerve conduction and symptoms due to axonal degeneration.
Type 3: has an onset much earlier and is sometimes called Dejerine–Sottas syndrome. Characterized by very slowed motor nerve conduction velocities.
The diagnosis of these conditions is based on the clinical picture, nerve conduction studies, and genetic analysis of the P0, PMP 22, (AD) and, less commonly, the Connexin 32 gene (X chromosome). There are now other genetic tests available including mitofusin 2 and ganglioside-induced differentiation-associated protein (GDAP).
Treatment is symptomatic with physiotherapy and orthoses in order to encourage joint mobility and maintain range of movement. Particular emphasis is put on the avoidance of contractures in the hands—‘clawing’, as well as peroneal muscle weakness, with foot drop and shortening of the Achilles tendons.
Other neuropathies
Neuropathy may also occur in many systemic disorders, including the following conditions:
Leucodystrophies.
Porphyria.
Diabetes.
Uraemia.
Hypothyroidism.
Vitamin deficiencies (B1, B6, B12, and E).
Autoimmune disorders such as SLE.
Acutely as part of the Guillain–Barré syndrome (G-BS).
Guillain–Barré syndrome
G-BS is an acute, potentially fatal, demyelinating polyneuropathy. It often follows an intercurrent infection, classically campylobacter enteritis. Initially, there are motor signs that progress up the body. That is, first there is gait disturbance, which then progresses to involvement of the arms, and then respiratory and bulbar involvement in severe cases. Children may complain of muscle pain, which can mask the weakness. Sensory involvement also occurs, but this feature may be overlooked.
Aetiology
EBV, cytomegalovirus.
Measles, mumps.
Enteroviruses.
Mycoplasma pneumoniae.
Borrelia burgdorferi.
Campylobacter.
Diagnosis
The differential diagnosis includes myasthenia gravis, polio, spinal cord compression/myelitis, and botulism. The main diagnostic features of G-BS are as follows.
Clinical picture: muscle weakness, with loss of reflexes in an ascending fashion.
Nerve conduction studies: demonstrate characteristic features.
Cerebrospinal fluid: elevated protein, but this does not occur at onset.
Variants: Miller–Fisher variant includes bulbar cranial nerve involvement, ophthalmoplegia, ataxia, and areflexia.
The bladder should be spared.
Course
Onset: starts 1–2wks after an antecedent illness.
Ascending weakness: the initial deterioration, normally lasts <2wks.
Plateau phase: symptoms are static, normally lasts for 1–2wks.
Recovery: should begin within 2–4wks, in a descending manner, though full recovery sometimes takes a number of months. The reflexes are the last to recover.
Management
Immediate admission for monitoring: of respiratory status (use forced vital capacity (FVC); see p.49) and autonomic involvement. Dysautonomia leads to tachycardia, fluctuating BP, and GI disturbance. Pain control. Feeding/swallowing assessment.
Early introduction of physiotherapy and occupational therapy to avoid joint contracture.
Control of pain.
Immunoglobulin: IV treatment (400mg/kg/day for 5 days) is normally used initially, with plasmapheresis reserved for refractory cases. Note risk of transmissible infection and allergic reactions to IVIG.
Neuromuscular junction
Autoimmune myasthenia gravis
The hallmark of this condition is fluctuating, fatiguable weakness. At onset 50% of patients have ptosis with, eventually, more than 80% developing it. The condition is caused by autoantibodies against the nicotinic acetylcholine (ACh) receptor, which blocks transmission at the neuromuscular junction. Normally, the condition is insidious, but sometimes an acute onset of fluctuating weakness of the extra-ocular, facial, oropharyngeal, respiratory, and limb muscles may present.
Diagnosis
Clinical picture: fatiguability of power/reflexes, particularly upward gaze with eyelids/elevation, fluctuating weakness of the extra-ocular, facial, oropharyngeal, respiratory, and limb muscles.
Electrophysiological assessment of the neuromuscular junction (NMJ) in affected muscles.
Response to a trial of edrophonium: video recording is essential as response may be brief.
ACh-receptor antibodies are present in more than 50% of cases.
Management
Immediate assessment of respiratory status using bedside measurement of FVC.
Immediate assessment of bulbar function looking at swallowing.
First-line: cholinesterase inhibitors such as pyridostigmine with steroids.
Refractory cases: acute, severe cases may respond to plasmapheresis. Subsequent immunosuppression, azathioprine, ciclosporin, methotrexate, and thymectomy. Needs to be monitored by an expert.
Outpatient management of NMJ and muscular disorders ( p.548).
Congenital myasthenia gravis (CMG)
These are mainly a group of autosomal recessive disorders. However, can rarely be caused by passive transfer of maternal antibodies, which quite often have a predeliction for the foetal NMJ. Unlike the better known acquired version, they are caused by congenital abnormalities in the release, receptors for or recycling of acetylcholine at the NMJ. Despite ‘less publicity’, they contribute a much greater part of neuromuscular practice as they are lifelong and cannot be cured completely, so require expert management.
Presentation
In some cases as neonates, with arthrogryposis +/− bulbar/respiratory insufficiency +/− facial weakness +/− limb girdle weakness. One symptom is particularly noteworthy—laryngeal palsy, as this is a rare condition, and very likely to be caused by a CMG if there are no other ENT problems.
Diagnosis
Clinical picture, including examination of mother (passive transfer of maternal antibodies).
Electrophysiological assessment of the NMJ in affected muscles.
Response to a trial of edrophonium: video recording is essential as response may be brief.
ACh-receptor antibodies are not normally present if the mother is unaffected.
Management
Outpatient management of NMJ and muscular disorders ( p.548).
Muscular disorders
Muscular dystrophies
Are a group of congenital disorders that are characterized by dystrophic change on muscle biopsy. They can affect muscles in different patterns and are characteristically associated with a raised creatine kinase enzyme.
Duchenne muscular dystrophy (DMD)
See also p.944. This condition classically presents within the first 4yrs with delayed motor milestones and mild speech delay. DMD is an X-linked recessive condition that lies at the severe end of the spectrum of disorders and is due to a molecular abnormality of dystrophin.
Examination
Waddling lordotic gait.
Calf hypertrophy.
Weakness in limb girdles (lower more than upper): Gower’s sign.
Sparing of the facial, extra-ocular, and bulbar muscles.
Investigation
Markedly raised creatine kinase.
Genetic analysis: this does not differentiate between the milder Becker muscular dystrophy (BMD) and more severe DMD, therefore expert interpretation is required.
Outpatient management of NMJ and muscular disorders ( p.548).
Myotonic dystrophy
Congenital form: severe cases may present in the neonatal period and are almost always of maternal inheritance. Infants present with hypotonia, feeding difficulty, tent-shaped mouth, and respiratory impairment. Treatment is supportive, but, notably, the symptoms become less disruptive as the child grows.
Later onset form: children present with hypotonia, myopathic face, and global developmental delay. Later complications include diabetes mellitus, cataracts, and cardiac involvement. The diagnosis will initially be made by the characteristic clinical picture.
Diagnosis
Confirmation can be made on examination of both parents and DNA analysis. EMG demonstrates the characteristic myotonic discharges, but is not needed for diagnosis.
Management
See Management of neuromuscular junction and muscular disorders, p.548.
⚠ Caution There is a particular risk of malignant hyperthermia during general anaesthesia.
Congenital myopathies
muscle weakness;
hypotonia;
variable involvement of the facial, bulbar, and extra-ocular muscles.
The congenital myopathies can be associated with arthrogryposis and if present in the neonate, may improve with good management for the first years.
Diagnosis
Clinical picture.
EMG and nerve conduction studies.
DNA analysis.
Muscle biopsy is used when the commoner disorders (myotonic dystrophy, DMD, and spinal muscular atrophy) have been excluded.
Management
(see p.548)
Management of neuromuscular junction and muscular disorders
These disorders are rare, severe and complicated. They need to be managed by a good local service with on going advice from a specialist centre. Key components of care include:
Assessment for power, joint ranges, and contractures. With appropriate advice from physio- and occupational therapists.
Access to speech therapy and dietary assessment.
Consideration on appropriate management of respiratory, cardiac and other systems’ complications.
Liaison with allied services, particularly education/social services.
Genetic counseling for the child and other family members.
Psychological support for the child and family.
It should be noted that, although a specialist centre will need to be involved, they will fail, if they do not liaise and empower a good local service, and the child/family, with the above key parts. Their advice on the projected trajectory and likely complications for the specific disorder should inform the exact local management plan.
⚠ Caution There is a particular risk of malignant hyperthermia during general anaesthesia for most neuromuscular disorders, so make sure child, parents and all relevant professionals are alerted, particularly family practitioners.
Cerebral palsy
Definition: a chronic disorder of movement and/or posture that presents early (i.e. before the age of 2yrs) and continues throughout life.
Causation: CP is caused by static injury to the developing brain.
Associations: children with CP are at increased risk of impairments including vision, hearing, speech, learning, epilepsy, nutrition, and psychiatric.
Clinical forms: most children will have a mixed disorder, but some can have pure components of spasticitiy, choreoathatosis, or very rarely ataxia.
Spastic CP
This is the commonest label and children can be hemiplegic, diplegic, or quadriplegic. Monoplegic cerebral palsy is extremely rare, and normally a misdiagnosis as the clinician has not examined the arm effectively. Spasticity is a stretch-related response characterized by a velocity-dependent, increased resistance to passive stretch. It is caused by disruption to the spinal reflex arc by the upper motor neuron. It will affect all the skeletal muscles and causes the following:
Increased tone and reflexes.
Clasp knife phenomenon on rapidly stretching tendons often described as a ‘catch’.
Leg: ankle plantar flexion, and either valgus or varus deformity of foot.
Hip: flexion, limited adduction, and often internal rotation.
Wrist: flexed and pronated.
Elbow: flexed.
Shoulder: adducted.
Bulbar muscles may be spastic giving dysphagia and dribbling.
Choreoathetosis
Condition presents as a 4-limb disorder with greatly increased tone while awake and less so during the early stages of sleep. These patients do not have the stretch-related response and increased reflexes of pure spastic CP. However, there may be combinations of these features in mixed CP. As the child matures they will often develop fixed reduction in joint range of movement and then the signs will be more difficult to distinguish from those of spastic CP. They almost always have bulbar problems.
Ataxic cerebral palsy
This form of CP is extremely rare and poorly understood. It is also known as the disequilibrium syndrome. Children have a congenital ataxia giving them a striking loss of balance in the early years (i.e. disequilibrium). They often have a mild diplegia and are thought to be aetiologically distinct from the other types of CP, where hypoxia and ischaemia are thought to be causal factors. It may be that congenital ataxia is a better than applying cerebral palsy—see Investigation of CP.
Investigation of CP
CP is a descriptive term of disability and not the cause.
The key factor is a static neurological insult.
May well be given in the history. Beware associations being used to explain CP; factors such as prematurity may lead to complications, but the child needs a comprehensive assessment to exclude other disorders—esp. progressive ones. All children need investigation.
History: the cause may be evident from a good history, in particular for prematurity and periods of hypoxic ischaemia.
Imaging: MRI scan of the brain, with particular reference to the pyramidal tracts in children with spasticity and the basal ganglia in others (Fig. 14.8). If there is a problem in the history, e.g. hypoxic ischaemic encephalopathy, then there should be signs of this on the imaging. Where imaging does not confirm a static insult, seek expert opinion.
T2-weighted axial images of bilateral periventricular leucomalacia.
Management of CP
Complex multidisciplinary input.: the primary therapists are the child’s carers as they will provide at least 90% of the therapy to the child. In the early years, experts in speech, physiotherapy, and occupational therapy will support this treatment.
Posture and movement: optimize function by improving symmetry, joint ranges, muscle length and power. Treatments and support include stretching exercises, orthoses (e.g. ankle foot orthosis), wheelchair for mobility, sleeping and standing systems, and botulinum toxin (Botox) to the gastrocnemius. Surgery is used as a last resort.
Communication: with speech therapy and aids.
Independence with a tailored educational program, aids under supervision from occupational therapy.
Cognition and learning support: with a tailored educational programme.
General medical: watch for seizures, constipation, malnutrition, and behavioural or psychiatric disturbance.
Note: Dopamine-responsive dystonia will very rarely present with an unexplained diplegia and normal MRI. All these children will need a trial of co-careldopa with a gradually increasing dose of up to 10mg/kg/day of the dopa component over 3mths. If there is not a significant improvement then the child is unlikely to be dopa-sensitive.
Acute encephalopathy
Encephalopathy is defined as a degeneration of brain function, due to different causes. However, in practical terms it is thought to denote a process with impaired cognition, ± focal neurological signs. It normally is matched by a typical EEG trace: with an abundance of slow waves. There is reduced consciousness as assessed by the GCS— p.76.
Note: The difference between encephalopathy and encephalitis—the latter being encephalopathy 2° to an infective process—mainly viral. It is thought that CSF with normal WCC excludes encephalitis.
Assessment
The cause will be apparent within the history in the majority of cases, e.g. meningitis, trauma, or HIE. Consider/ask about potential causes:
Infections: viruses as well as bacterial, e.g. meningitis.
Metabolic: including mitochondrial dysfunction, check for consanguinity.
Autoimmune: e.g. ADEM, thyroiditis.
Increased ICP: e.g. tumours obstructing CSF.
Lack of oxygen or blood flow: hypoxia-ischaemia.
Trauma.
Toxins (inc. solvents, drugs, alcohol, and metals).
Radiation.
Nutrition.
If not, or to confirm then perform a full neurological examination—with particular reference to assessment of the conscious state and place on the GCS, eye movement, fundi, bulbar control (can the child manage secretions?), upper motor neuron signs in limbs. Also check for other system involvement—skin, immune, and viscerae.
Management
These children are very sick, and at risk of cardiorespiratory compromise, until a diagnosis has been made, and they have a secure plan to manage the encephalopathy. Management should be performed simultaneously to investigation.
Is the GCS<8? If so proceed to intubation/ventilation, keep the CO2 between 4 and 5kpa.
Treat shock if present. If not, then IV fluids at 60% of normal daily volume requirements. Early consideration for NG feeding, if too unwell too feed orally.
Check, full blood count, CRP, ESR, glucose and renal/liver function. If cause unclear, check serum ammonia, lactate, acylcarnitine profile, urine organic acid profile and store for further assessment as needed, e.g. toxicology.
Only when stable, perform LP make sure there is a full WCC, glucose, protein, lactate and stored sample for subsequent viral analysis/immunology as needed.
Neuroimaging is essential, but should only be performed once the child is stable. Always give enhancement, if possible scan the spine as well, and get MRI rather than CT, although the latter is better than nothing.
Further therapy will depend on the case, and should only happen within a centre with a paediatric neurology service and the intensive care unit.
