This is a symmetrical headache of gradual onset, often described as tightness, a band or pressure. There are usually no other symptoms.

Headaches often raise the fear of brain tumours; it may well be the reason for parents to consult a doctor. Headaches due to a space-occupying lesion are worse when lying down and morning vomiting is characteristic. The headaches may also cause night-time waking. There is often a change in mood, personality or educational performance. Other features suggestive of a space-occupying lesion are:

Other causes

These are listed in Box 27.1.

Management

The mainstay of management is a thorough history and examination with detailed explanation and advice. Imaging is unnecessary in the absence of any Red Flag features.

Children and parents should be informed that recurrent headaches are common. For most there are good and bad spells, with periods of months or even years in between the bad spells, and that they cause no long-term harm. Written child-friendly information for the family to take home is helpful. Children should be advised on how to live with and control the headaches, rather than allowing the headaches to dominate their lives. There is nothing medicine can do to cure this problem but there is much it can offer to make the bad spells more bearable.

Psychosocial support

• Psychological support – is it required to ameliorate a particular stressor, e.g. bullying, anxiety over exams or illness in friends or family?

• Relaxation and other self-regulating techniques.

Systematic reviews highlight the need for further evidence on which to base headache management.

Summary

Febrile seizures

A febrile seizure is a seizure accompanied by a fever in the absence of intracranial infection due to bacterial meningitis or viral encephalitis. These occur in 3% of children, between the ages of 6 months and 5 years. There is a genetic predisposition, with a 10% risk if the child has a first-degree relative with febrile seizures. The seizure usually occurs early in a viral infection when the temperature is rising rapidly. The seizures are usually brief, and are generalised tonic-clonic seizures. About 30–40% will have further febrile seizures. This is more likely the younger the child, the shorter the duration of illness before the seizure, the lower the temperature at the time of seizure and if there is a positive family history.

Simple febrile seizures do not cause brain damage; the child’s subsequent intellectual performance is the same as in children who do not experience a febrile seizure. There is a 1–2% chance of developing epilepsy, similar to the risk for all children.

However, complex febrile seizures; i.e. those which are focal, prolonged, or repeated in the same illness, have an increased risk of 4–12% of subsequent epilepsy.

The acute management of seizures is described in Chapter 6. Examination should focus on the cause of the fever, which is usually a viral illness, but a bacterial infection including meningitis should always be considered. The classical features of meningitis such as neck stiffness and photophobia may not be as apparent in children <18 months of age, so an infection screen (including blood cultures, urine culture and lumbar puncture for CSF) may be necessary. If the child is unconscious or has cardiovascular instability, lumbar puncture is contraindicated and antibiotics should be started immediately.

Parents need reassurance and information. Advice sheets are usually given to parents. Antipyretics have not been shown to prevent febrile seizures and tepid sponging is no longer recommended. The family should be taught the first aid management of seizures. If there is a history of prolonged seizures (>5 min), rescue therapy with rectal diazepam or buccal midazolam can be supplied. Oral prophylactic anti-epileptic drugs are not used as they do not reduce the recurrence rate of seizures or the risk of epilepsy. An EEG is not indicated as it does not serve as a guide for treatment; nor does it predict seizure recurrence.

Paroxysmal disorders

There is a broad differential diagnosis for children with paroxysmal disorders (‘funny turns’). Epilepsy is a clinical diagnosis based on the history from eyewitnesses and the child’s own account. If available, videos of the seizures or suspected seizures can be of great help. The diagnostic question is whether the paroxysmal events are that of an epilepsy of childhood or one of the many conditions which mimic it (Fig. 27.1). The most common pitfall is that of syncope leading to an anoxic (non-epileptic) tonic-clonic seizure.

The key to the diagnosis lies in a detailed history, which, together with clinical examination, will determine the need for an EEG or other investigations.

Status epilepticus

Status epilepticus, a seizure lasting 30 min or repeated seizures for 30 min without recovery of consciousness is described in Chapter 6.

Disorders of the anterior horn cell

Presentation is with weakness, wasting and absent reflexes. The features of poliomyelitis are described in Chapter 14.

Spinal muscular atrophy type 1 (Werdnig–Hoffmann disease)

A very severe progressive disorder presenting in early infancy (Fig. 27.7). Diminished fetal movements are often noticed during pregnancy and there may be arthrogryposis (positional deformities of the limbs with contractures of at least two joints) at birth. Typical signs include:

• Lack of antigravity power in hip flexors

• Absent deep tendon reflexes

• Intercostal recession

• Fasciculation of the tongue.

These children never sit unaided. Death is from respiratory failure within about 12 months. There are milder forms of the disorder with a later onset. Children with type 2 spinal muscular atrophy can sit, but never walk independently. Those with type 3 (Kugelberg–Welander) do walk and can present later in life.

This group of disorders typically leads to symmetrical, slowly progressive muscular wasting, which is distal rather than proximal. Type I, formerly known as peroneal muscular atrophy (Charcot–Marie–Tooth disease), is usually dominantly inherited and the most common. Affected nerves may be hypertrophic due to demyelination followed by attempts at remyelination. Nerve biopsy typically shows ‘onion bulb formation’ due to these two processes. Onset is in the first decade with distal atrophy and pes cavus, the legs being affected more than the arms. Rarely, there may be distal sensory loss and the reflexes are diminished. The disease is chronic and only rarely do those affected lose the ability to walk. The initial presentation of Friedreich ataxia can be similar.

Bell palsy and facial nerve palsies

Bell palsy is an isolated lower motor neurone paresis of the VIIth cranial nerve leading to facial weakness (Fig. 27.8). Although the aetiology is unclear, it is probably post-infectious with an association with herpes simplex virus in adults. Corticosteroids may be of value in reducing oedema in the facial canal during the first week; no benefit from aciclovir has been demonstrated. Recovery is complete in the majority of cases but may take several months. The main complication is conjunctival infection due to incomplete eye closure on blinking. This may require the eye to be protected with a patch or even tarsorrhaphy.

There is an important differential diagnosis. If symptoms of an VIIIth nerve paresis are also present then the most likely diagnosis is a compressive lesion in the cerebellopontine angle. The herpes virus may invade the geniculate ganglion and give painful vesicles on the tonsillar fauces and external ear, along with a facial nerve paresis. Treatment for this is with aciclovir.

Hypertension should be excluded, as there is an association between Bell palsy and coarctation of the aorta. If the facial weakness is bilateral, sarcoidosis should be suspected, and this is also seen in Lyme disease.

This presents as abnormal muscle fatiguability which improves with rest or anticholinesterase drugs.

Juvenile myasthenia

This is similar to adult autoimmune myasthenia and is due to binding of antibody to acetylcholine receptors on the post-junctional synaptic membrane. This gives a reduction of the number of functional receptors. Presentation is usually after 10 years of age with ophthalmoplegia and ptosis, loss of facial expression and difficulty chewing (Fig. 27.9). Generalised, especially proximal, weakness may be seen.

Diagnosis is made by observing improvement following the administration of intravenous edrophonium and can be further confirmed by testing for acetylcholine receptor antibodies (seen in 60–80%) or, more rarely, anti-muscle-specific kinase (anti-MuSK) antibodies. Treatment is with the anti-muscarinic drugs neostigmine or pyridostigmine. In the longer term, immunosuppressive therapy with prednisolone or azathioprine is of value. Plasma exchange is used for crises. Thymectomy is considered if a thymoma is present or if the response to medical therapy is unsatisfactory. About a quarter will show remission post thymectomy and up to half show some improvement.

This is a group of inherited disorders with muscle degeneration, often progressive.

The inflammatory myopathies

Benign acute myositis

This is assumed to be a post-viral phenomenon, as it often follows an upper respiratory tract infection and runs a self-limiting course. Pain and weakness occur in affected muscles. CPK is usually raised.

Dermatomyositis

This is a systemic illness, probably due to an angiopathy. Usual onset is between 5 and 10 years. This can be acute, but more typically is insidious with fever, misery, and eventually symmetrical muscle weakness, which is mainly proximal. Sometimes pharyngeal muscle involvement affects swallowing. There is also a characteristic violaceous (heliotrope) rash to the eyelids, and periorbital oedema (Fig. 27.10). The rash may also affect the extensor surfaces of joints, e.g. elbow, and with time subcutaneous calcification can appear. Inflammatory markers (CRP, ESR) can be raised but not invariably. Muscle biopsy shows an inflammatory cell infiltrate and atrophy. Physiotherapy is needed to prevent contractures. Corticosteroids are the standard treatment, and continue at a tailored dose for 2 years. Other immunosuppressants, e.g. methotrexate, ciclosporin, may be needed. Mortality is 5–10%.

Myotonic disorders

Myotonia is delayed relaxation after sustained muscle contraction. It can be identified clinically and on electromyography.

Dystrophia myotonica

This relatively common illness is dominantly inherited and caused by a nucleotide triplet repeat expansion, so this means there can be anticipation through generations, especially when maternally transmitted (see Ch. 8). Newborns can present with hypotonia and feeding and respiratory difficulties due to muscle weakness. It is then useful to examine the mother for myotonia. This manifests as slow release of handshake or difficulty releasing the tightly clasped fist. This may be mild and not have been appreciated. Sensitivity is required as diagnosis in the neonate may have repercussions for the family. Older children can present with myopathic facies (Fig. 27.11), learning difficulties and myotonia. Adults develop cataracts and males develop baldness and testicular atrophy. Death is usually due to cardiomyopathy.

The ‘floppy infant’

Persisting hypotonia in infants can be readily felt on picking up the infant, who tends to slip through the fingers or hang like a rag doll when suspended prone. There will be marked head lag when the head is lifted by the arms from supine. The causes are listed in Box 27.3. The clinical examination may help determine the site of the lesion, whether cortical or neuromuscular. Central hypotonia is associated with poor truncal tone but preserved limb tone. Dysmorphic features suggest a genetic cause. Lower motor neurone lesions are suggested by a frog-like posture (Fig. 27.7), poor antigravity movements and absent reflexes.

Ataxia telangiectasia

This disorder of DNA repair is an autosomal recessive condition. The gene (ATM) has been identified. There may be mild delay in motor development in infancy and oculomotor problems with incoordination and delay in ocular pursuit of objects (oculomotor dyspraxia), with difficulty with balance and coordination becoming evident at school age. There is subsequent deterioration, with a mixture of dystonia and cerebellar signs. Many children require a wheelchair for mobility in early adolescence. Telangiectasia develops in the conjunctiva (Fig. 27.12), neck and shoulders from about 4 years of age. These children:

Other hereditary cerebellar ataxias

There is a growing number of these, largely dominantly inherited (genotypes identified), with a relatively benign course in childhood.

This usually follows direct head trauma, often associated with skull fracture (tearing of middle meningeal artery as it passes through the foramen spinosum of the sphenoid bone). It results from arterial or venous bleeding into the extradural space. There is often a lucid interval until the conscious level deteriorates, with seizures, secondary to increasing size of the haematoma. There may be focal neurological signs with dilatation of the ipsilateral pupil, paresis of the contralateral limbs and a false localising uni- or bilateral VIth nerve paresis. In young children, initial presentation may be with anaemia and shock. The diagnosis is confirmed with a CT scan. Management is to correct hypovolaemia, urgent evacuation of the haematoma and arrest of the bleeding.

Stroke

Infantile stroke is dealt with in Chapter 10. Childhood stroke may be due to vascular, thromboembolic or haemorrhagic disease. The clinical presentation is determined by the vascular territory involved. There is compromise of the anterior circulation (internal carotid, anterior and middle cerebral arteries), which leads to hemiparesis with or without speech disturbance. Less common is compromise of the posterior circulation (vertebrobasilar arteries) with associated visual or cerebellar signs.

Causes include:

Investigations should include an assessment of cerebral vasculature with MRI and MRA and carotid Doppler studies to rule out dissection of the carotid arteries (formal angiography may be required later); echocardiography to detect a source of embolism, along with a thrombophilia and vasculitis screen, and metabolic tests for homocysteine and mitochondrial cytopathy. Often no cause can be identified. Rehabilitation requires the involvement of the remedial therapy team. Aspirin prophylaxis is recommended but further evidence is needed on the advisability of anti-thrombolytic agents.

Anencephaly

This is failure of development of most of the cranium and brain. Affected infants are stillborn or die shortly after birth. It is detected on antenatal ultrasound screening and termination of pregnancy is usually performed.

Encephalocele

There is extrusion of brain and meninges through a midline skull defect, which can be corrected surgically. However, there are often underlying associated cerebral malformations.

Spina bifida occulta

This failure of fusion of the vertebral arch (Fig. 27.14a) is often an incidental finding on X-ray, but there may be an associated overlying skin lesion such as a tuft of hair, lipoma, birth mark or small dermal sinus, usually in the lumbar region. There may be underlying tethering of the cord (diastematomyelia), which, with growth, may cause neurological deficits of bladder function and lower limbs. The extent of the underlying lesion can be delineated using ultrasound and/or MRI scans. Neurosurgical relief of tethering is usually indicated.

Meningocele and myelomeningocele

Meningoceles (Fig. 27.14b) usually have a good prognosis following surgical repair.

Myelomeningoceles (Figs 27.14c, 27.15) may be associated with:

Neural tube defects

Management – The back lesion is usually closed soon after birth.

Paralysis and muscle imbalance – physiotherapy helps prevent joint contractures. Walking aids or a wheelchair help mobility.

For sensory loss – skin care is required to avoid the development of skin damage and ulcers.

Neuropathic bladder – an indwelling catheter may be required for a neurogenic bladder, or intermittent urinary catheterisation may be performed by parents or by older children themselves. There should be regular checks for hypertension, renal function and urinary infection. Prophylactic antibiotics may be necessary. Medication (such as ephedrine or oxybutynin) may improve bladder function and improve urinary dribbling.

Bowel denervation – requires regular toileting, and laxatives and suppositories are likely to be necessary with a low roughage diet for lesions above L3.

Scoliosis – is monitored and may require surgical treatment. Ventricular dilatation associated with a Chiari malformation – often present at birth and 80% of affected infants require a shunt for progressive hydrocephalus during the first few weeks of life.

The most severely disabled have a spinal lesion above L3 at birth. They are unable to walk, have a scoliosis, neuropathic bladder, hydronephrosis and frequently develop hydrocephalus.

Modern medical care has improved the quality of life for severely affected children. Their care is best managed by a specialist multidisciplinary team.

Hydrocephalus

In hydrocephalus, there is obstruction to the flow of cerebrospinal fluid, leading to dilatation of the ventricular system proximal to the site of obstruction. The obstruction may be within the ventricular system or aqueduct (non-communicating or obstructive hydrocephalus), or at the arachnoid villi, the site of absorption of CSF (communicating hydrocephalus) (Box 27.4).

Clinical features

In infants with hydrocephalus, as their skull sutures have not fused, the head circumference may be disproportionately large or show an excessive rate of growth. The skull sutures separate, the anterior fontanelle bulges and the scalp veins become distended. An advanced sign is fixed downward gaze or sun setting of the eyes (Fig. 27.16). Older children will develop signs and symptoms of raised intracranial pressure.

Hydrocephalus

Hydrocephalus may be diagnosed on antenatal ultrasound screening or in preterm infants on routine cranial ultrasound scanning. For suspected hydrocephalus, initial assessment is with cranial ultrasound (in infants) or imaging with CT or MRI. Head circumference should be monitored over time on centile charts.

Treatment is required for symptomatic relief of raised intracranial pressure and to minimise the risk of neurological damage. The mainstay is the insertion of a ventriculoperitoneal shunt (Fig. 27.17), but endoscopic treatment to create a ventriculostomy can now be performed. Shunts can malfunction due to blockage or infection (usually with coagulase-negative staphylococci). They then need replacing or revising. Overdrainage of fluid can cause low-pressure headaches but the insertion of regulatory valves can help avoid this.

Summary

Hydrocephalus

• In infants, presents with excessive increase in head circumference, separation of skull sutures, bulging of the anterior fontanelle, distension of scalp veins and sun setting of the eyes

• Older children present with raised intracranial pressure

• Treatment is usually with a ventriculo-peritoneal shunt.

Neurofibromatosis type 1 (NF1)

This affects 1 in 3000 live births. It is an autosomal dominant, highly penetrant condition. One-third have new mutations. The gene has been identified.

In order to make the diagnosis, two or more of these criteria need to be present:

The cutaneous features tend to become more evident after puberty, and there is a wide spectrum of involvement from mild to severe. Neurofibromata appear in the course of any peripheral nerve, including cranial nerves. They may look unsightly or cause neurological signs if they occur at a site where a peripheral nerve passes through a bony foramen. Visual or auditory impairment may result if there is compression of the IInd or VIIIth cranial nerve. Megalencephaly with learning difficulties and epilepsy are sometimes seen.

Neurofibromatosis type 2 (NF2; bilateral, acoustic or central) is less common and presents in adolescence. Bilateral acoustic neuromata are the predominant feature and present with deafness and sometimes a cerebellopontine angle syndrome with a facial (VIIth) nerve paresis and cerebellar ataxia.

Neurocutaneous syndromes

There may be an overlap between the features of NF1 and NF2. Both NF1 and NF2 can be associated with endocrinological disorders, the multiple endocrine neoplasia (MEN) syndromes.

Other associations are phaeochromocytoma, pulmonary hypertension, renal artery stenosis with hypertension, and gliomatous change, particularly in central nervous system lesions. Rarely, the benign tumours undergo sarcomatous change. However, most people with the disorder carry no features other than the cutaneous stigmata.

Tuberous sclerosis

This disorder is a dominantly inherited disorder, but up to 70% are new mutations. Prevalence is 1 in 9000 live births.

The cutaneous features consist of:

Neurological features are:

These children have severe learning difficulties and often have autistic features to their behaviour when older. Other features are:

As with neurofibromatosis, gliomatous change can occur in the brain lesions. Many people who carry the gene have no stigmata other than the cutaneous features and no associated neurological features.

CT scans will detect the calcified subependymal nodules and tubers from the second year of life. MRI is more sensitive and more clearly identifies other tubers and lesions.

Sturge–Weber syndrome

This is a sporadic disorder with a haemangiomatous facial lesion (a port-wine stain) in the distribution of the trigeminal nerve associated with a similar lesion intracranially. The ophthalmic division of the trigeminal nerve is always involved (Fig. 27.20). Calcification of the gyri used to show characteristic ‘rail-road track’ calcification on skull X-ray, but MRI is the imaging modality of choice nowadays. In the most severe form, it may present with epilepsy, learning disability and hemiplegia. Children presenting with intractable epilepsy in early infancy may benefit from hemispherectomy. For children who are less severely affected, deterioration is unusual after the age of 5 years, although there may still be seizures and learning difficulties. There is a high risk of glaucoma, which should be assessed in the neonatal period.

Lysosomal storage disorders

In metachromatic leucodystrophy, a sulfatidosis, an accumulation of sulphatides causes a destruction of myelin and is diagnosed on testing white cell enzymes.

In lipid storage disorders (Table 27.5), which are sphingolipidoses, there is an accumulation of sphingolipids, essential components of CNS membranes. They are diagnosed on testing white cell enzymes.

The mucopolysaccharidoses are progressive multisystem disorders which may affect the neurological, ocular, cardiac and skeletal systems (Table 27.6). Hepatosplenomegaly is usually present. Most children present with developmental delay following a period of essentially normal growth and development up to 6–12 months of age. Developmental attainment then slows and children may show some loss of skills. It is only in the second 6 months of life that the characteristic facies begin to emerge, with coarsening of the facial features and prominent forehead due to frontal bossing (Fig. 27.21).

Mucopolysaccharidoses

Table 27.6

Clinical features of mucopolysaccharidoses

Eyes	Corneal clouding
	Retinal degeneration
	Glaucoma
Skin	Thickened skin
	Coarse facies
Heart	Valvular lesions
	Cardiac failure
Neurology	Developmental regression
Skeletal	Thickened skull
	Broad ribs
	Claw hand
	Thoracic kyphosis
	Lumbar lordosis
Other	Hepatosplenomegaly
	Carpal tunnel syndrome
	Conductive deafness
	Umbilical and inguinal hernias

Table 27.7

Types of mucopolysaccharidoses

Type	Inheritance	Cornea	Heart	Brain	Skeletal
MPS I (Hurler)	AR	+++	++	+++	++
MPS II (Hunter)	X-linked	−	+	++	+
MPS III (Sanfilippo)	AR	±	−	+	+
MPS IV (Morquio)	AR	+	+	−	+++
MPS VI (Maroteaux–Lamy)	AR	+++	++	−	++

AR, autosomal recessive.

The characteristics of five of the varieties are shown in Table 27.7. The diagnosis is made by identifying the enzyme defect and the excretion in the urine of the major storage substances, the glycosaminoglycans (GAGs). Treatment is supportive according to the child’s needs. Successful enzyme replacement by bone marrow transplantation has been performed but cannot reverse any established neurological abnormality.