Student Authors: Farai Chigumadzi and Peter Aclavio

Specialist Advisor: Dr Chantel Richardson

Cover Image

This chapter covers the following topics:


It is a common problem and can be potentially life-threatening. Healthcare professionals have a duty to report any suspected or confirmed NAI to the relevant authorities e.g. senior clinical staff or child protection services.


NAI may be the result of maltreatment in the form of:

Clinical Features

The child may present with:

Below (table 11.1) are some red flags which may indicate that the child has suffered an NAI:

Table 11.1: NAI Red Flags

Red Flags on History Red Flags on Examination
  • Variable/inconsistent history
  • Injuries not consistent with history
  • Delay in seeking treatment
  • Multiple injuries
  • Repeated admissions or presentations to the emergency unit
  • Unexplained symptoms e.g. factitious
  • Findings not in keeping with developmental age of child e.g. non-mobile child with bruising/fracture
  • Bruises that resemble the shape of instruments or a hand
  • Many bruises and bruises of different ages
  • Bruises over soft tissue
  • Burns e.g. cigarette burns (common)
  • Forced hot water immersion (will have glove and stocking distribution)
  • Recurrent fractures (must exclude metabolic bone disease)
  • Overbearing parent/guardian
  • Fractures (especially metaphysical, posterior rib, skull, scapula or sternum)
  • Retinal haemorrhage
  • Signs of neglect


They should include


One must carefully record the child’s injuries and contact the relevant authorities e.g. child protection services, senior staff, police.


It is a clinical syndrome characterised by the rapid onset of weakness and reduced muscle tone without an obvious cause. Early diagnosis improves both morbidity and mortality.


The syndrome is the result of anterior horn cell injury which is usually secondary to viral infection (e.g. polio; however polio has nearly been completely eradicated) or immune-mediated peripheral pathologies.

Aetiology, Clinical Features and Investigations

Guillain Barré syndrome (GBS) is the most common cause of AFP in SA. It is classically preceded by a URTI and is characterised by symmetrical motor weakness of the lower limbs which ascends to involve the trunk and upper limbs to varying degrees. Fortunately, 80% of patients make a full recovery. Pertinent clinical signs include:

An LP should be done as it will show isolated raised CSF protein in GBS and can be used to exclude other causes.


One’s immediate management priorities are to diagnose the child with AFP and provide:

IV gamma globulin is also used.


See the Disorders of Development chapter


They are unpleasant and disruptive behaviours and emotional outbursts. They may be common in some communities and usually manifest between the ages of 15 months and 3 years.

Temper tantrums are associated with unmet needs or desires i.e. the child is not allowed to ‘have his/her own way’. They form part of the ‘negative stage of child development’ and are worsened by the child’s lack of vocabulary to fully express their feelings.

Clinical Features

Generally, the parent will give a history of the child lying down, kicking and screaming. The physical exam will be normal and is only done to reassure the parent.

Red flags include:


Temper tantrums are usually a passing phase and these children generally respond well to counselling. Parents must be reassured and given encouragement. They should not reinforce the negative behaviour by acquiescing to the child, but need to be taught coping strategies. Principles of management include:

Problems occur when parental control is lacking or the family has a chaotic lifestyle. Important factors to consider when managing these patients are:


This term refers to episodes when the child suddenly wakes up at night and is very upset.

Clinical Features

Night terrors generally occur during phase 3 non-REM (deep) sleep and usually occur early in the night. The episode tends to last 10-20 minutes and the child usually has 2-3 episodes weekly. Clinical features include:


There is no specific treatment for night terrors. The child cannot be soothed during the episode but s/he will fall asleep after an episode. One must not try to wake the child.

If the night terrors take place at the same time every night, the child can be woken up 15 minutes before the time to try and prevent the episode. The child is then allowed to stay awake for a few minutes before falling asleep again.


They are closely related to temper tantrums and are usually present between the ages of 6 and 18 months (rare in children >4 years).

Classification and Clinical Features

Breath-holding attacks may be of the cyanotic- or pale-type. Anoxia precipitates both types of attack and both types are associated with iron-deficiency anaemia.


The parents must be reassured that the condition is benign and is unrelated to epilepsy. However, a full history must be done and thorough physical examination done. Iron-deficiency should also be corrected, if present.


See the Child and Adolescent Psychiatry chapter.


See the Child and Adolescent Psychiatry chapter.


It is defined as an abnormally small head (head circumference >2 standard deviations below normal. Microcephaly (see related image here) may be isolated or 219 may be associated with congenital anomalies. It is a disorder of cell proliferation and brain growth as a whole is defective. The frontal lobes are usually more affected following perinatal insults. The cerebellum is usually relatively spared.


Causes of microcephaly include:

Clinical Features

The child may present with:


No treatment is available to reverse microcephaly. Parents should be counselled and individual problems treated by the multidisciplinary team, such as audiology referral to manage for hearing impairment, and occupational therapist referral to teach the child skills which help him/her better integrate into society. Anticonvulsants may be prescribed for the child with seizures.


It is an abnormally large head with an increased CSF volume and/or pressure.


Hydrocephalus is the result of:


Hydrocephalus may be caused by:

See related image here.

Clinical Features

The child may present with:


Serial head circumference measurements should be taken and plotted to track progression. The child should be referred early for the insertion of a shunt 221 (ventriculoperitoneal shunt or third ventriculostomy). Once a shunt has been placed, the child must be regularly followed up to ensure that it has been correctly inserted.


They include:


It is unco-ordination of postural control and gait, as well as unco-ordination of skilled movements involved in fine hand movements and speech.


Disturbances in cerebellar function generally lead to ataxia. One must be able to differentiate acute causes from chronic conditions.

Table 11.2: Perinatal and Postnatal Causes of Ataxia

Perinatal Causes Postnatal Causes
  • Birth asphyxia
  • Congenital malformations
  • Primary cerebellar hypoplasia
  • FAS
  • Friedrich’s ataxia
  • Hydrocephalus
  • Meningitis
  • Metabolic disease (hypoglycaemia, hyperbilirubinaemia)
  • Hypoxic insults
  • Hypoglycaemia
  • Thyroid deficiency
  • Chronic phenytoin use
  • Thiamine deficiency
  • Trauma
  • Genetic causes e.g. ataxia telangiectasia, Friedrich’s ataxia

Clinical Features

The cerebellum matures with age, therefore signs which are considered pathological in the adult may be physiological in the child. Clinical features may include:


Choreas are rapid, brief, jerky movements that are irregular and unpredictable. They are often associated with hypotonia. It is thought that the caudate nucleus and subthalamic nuclei are involved in the pathophysiology of chorea. One must always consider rheumatic fever as a cause of the chorea (Sydenham’s chorea).

Sydenham’s Chorea

It is characterised by abrupt, irregular and purposeless movements. ARF is the most common cause of acquired chorea in the young (see Cardiovascular Diseases chapter). Sydenham’s chorea is common in the developing world.

Clinical Presentation

This major manifestation of ARF is characterised by:


One must investigate to exclude cardiac pathology. All affected children should be given penicillin V followed by prophylaxis, if ASOT titres and anti-DNAse levels are raised. The chorea is treated with the lowest-tolerated dose of haloperidol (see related image here) or with sodium valproate. The child should be referred to a paediatrician if his/her activities of daily living have been affected.


It is simultaneous, sustained contraction of agonist and antagonist muscles, leading to posture disturbances and involuntary movements of the trunk, limbs and face. These movements are slow, laboured and repetitive in nature (alternate between flexion and extension).

It may be caused by:


Seizures are caused by abnormal and excessive neuronal activity in the brain, and lead to transient signs and symptoms


Seizures may be caused by:

Diagnosis and Investigations

A seizure disorder may be diagnosed if the child has had >2 unprovoked seizures. However, a thorough and reliable history is very important, especially eyewitness reports (video footage can be very helpful). Other investigations which may be helpful include:

See related image here.

Classification and Clinical Features

Seizure disorders may be classified into syndromes based on clinical features:

Febrile Seizures

They are generalised seizures which occur because of an extracranial cause of fever. They affect children aged 6 months to 5 years and do not usually last longer than 15 minutes. There is often a family history of febrile seizures.


There are two categories of febrile seizures:

Infantile Spasms

They mainly occur in children within the first year of life and are characterised by


Causes of infantile spasms include:

When the diagnosis of infantile spasms is made, one must assess the child for West syndrome. West syndrome is diagnosed based on the presence of the following triad:


Infantile spasms are a neurological emergency, therefore an EEG must be urgently done. However, they are strongly resistant to conventional anti-epileptic treatment. The treatment of choice is with a combination of steroids and vigabatrin. Vigabatrin alone may be given to patients with tuberous sclerosis.

Table 11.3: Status Epilepticus

Status Epilepticus
It is an epileptic seizure which is sufficiently long or regularly repeated to produce a varying and enduring epileptic condition, in terms of convulsions or mental state i.e. the child has seizures lasting 30 mins or longer with no recovery of consciousness between seizures. Status epilepticus is common in the first two years of life.

General Management of Seizures

The aim of management is to maintain vital functions. Thus, one must identify the cause and treat it according to the relevant protocol.

General management principles include:

If one is unable to control seizures with the correct agent that is being given at the appropriate dose, the child should be referred to a paediatrician or paediatric neurologist.

Non-specialist management options may be grouped according to seizure type:


It may occur in a child with any of the following risk factors:


Paediatric strokes may be classified according to

If the stroke is arterial, it may be further classified as embolic or thrombotic.


An ischaemic stroke may be the result of:

A haemorrhagic stroke may be the result of:

Clinical Features

The child will present with a specific stroke syndrome based on the artery involved:



The child may present with:


One must pay look for attention to:


They should include:

Differential Diagnoses

Paediatric stroke mimics include:


The aim of acute management is to preserve the penumbra. This is done by:

Secondary prevention should be started in patients with underlying cardiovascular disease. Start the child on anticoagulation with low molecular weight heparin. It is recommended that these children are managed in consultation with the relevant specialist (paediatric neurologist, haematologist or cardiologist).

Rehabilitation is multidisciplinary and should involve a physiotherapist, occupational therapist, audiologist and speech therapist. One must address issues with feeding, nutrition, pain, communication, mobility and positioning.


Headaches are common in children and their frequency increases with age. Most headaches are benign. However, one must take a detailed history of the pain (SOCRATES) and ask about social and psychological factors.


Headaches may be caused by:


One must rule out pathological causes of headaches by asking about the following danger signs:

If any of the above features are present, one must investigate further with:

Patients with danger signs and who cannot be managed at the primary care level should be referred to a paediatrician or paediatric neurologist.


A myelomeningocoele (see related image here) is a midline defect of the skin and vertebral arch which contains both meninges and neural tissue. The lumbosacral region of the spinal cord is the most commonly affected area. One must look for sensorimotor impairment as well as bladder and bowel incontinence.


The aetiology of myelomeningocoeles is poorly understood. However, evidence suggests that there is an association with inadequate levels of folate before conception and during the first trimester. There is an increased risk of recurrence in subsequent pregnancies.

Arnold-Chiari malformations are the most commonly associated congenital anomalies (lead to hydrocephalus).

Diagnosis and Investigations

Myelomeningocoeles may be diagnosed:

Once diagnosed, one should perform a CT scan and cranial USS (to assess initial ventricular size so that subsequent monitoring can be done).


Prenatal counselling should

One should attempt to diagnose the condition early – in-utero or at birth. If diagnosed in-utero, prenatal counselling should be performed. If diagnosed at birth, one should initiate emergency management:

233 Associated abnormalities must then be excluded. A multidisciplinary team must be involved in the care of this child (neurologist, orthopaedic surgeon/neurosurgeon, physiotherapist, urologist).


See Infectious Diseases chapter.


It is an autosomal recessive disorder which is characterised by progressive hypotonia and muscular weakness. It is a common genetic cause of mortality in children, with males being affected more commonly than females (2:1). There is a high prevalence in Central and Eastern Europe.


The primary pathology involves progressive degeneration of 𝛼𝛼-motor neurons on anterior horn cells in the spinal cord. This is caused by a mutation in the gene responsible for the survival of motor neurons.

Clinical Presentation

The child will present with:


SMA is classified into four types according to the age of onset of clinical features and most advanced physical milestone achieved:

The prognosis is worse the younger the age of onset is. The median age of death is 10 years old and is normally due to respiratory compromise.


Children with SMA are all affected differently, therefore treatment should be catered to the individual. Management is mainly supportive and involves a multidisciplinary team (pulmonologist, orthopaedic surgeon, nutritionist, genetic counsellor, social worker, occupational therapist, physiotherapist and orthotist). Surgical interventions are considered to treat scoliosis, contractures and fractures.

Thus far, no cure has been found but research is ongoing. Currently, scientists are looking at inhibitors of GABA synthesis and genetic therapy which attempts to fix/replace the affected gene.


They are congenital disorders that are due to genetic changes. Tissues and organs derived from the ectoderm are generally affected (i.e. skin, nervous tissue, eyeballs and retina), however bones and visceral organs may also be affected. The conditions evolve slowly throughout childhood and the lesions have malignant potential.


Neurocutaneous syndromes may be diagnosed based on the results of:


Neurocutaneous syndromes include:

Tuberous Sclerosis

It is an autosomal dominant with variable expression. Features evolve as the child grows. It is diagnosed based on the presence of two major features, or one major feature and two minor features. TSC1 gene mutations are familial and TSC2 gene mutations are associated with adult polycystic kidney disease.

Sturge-Weber Syndrome

In this syndrome angiomas cross the leptomeninges and involve the skin of the face, producing a characteristic skin lesion (typically in the ophthalmic or maxillary region of the trigeminal nerve). The associated mutation is sporadic and there are three subtypes of the syndrome.

Affected children may present with:

Neurofibromatosis (NF)

There are two types – NF 1 and 2. Males and females are equally affected (1:1) in both types (see related image here).

Neurofibromatosis Type 1 (Nf1)/Von Recklinghausen’s Disease

This is an autosomal dominant condition which is more common than NF2. The child may present with:

NF1 is diagnosed based on the presence of specific diagnostic criteria:

Neurofibromatosis Type 2 (Nf2)

The child may present with:


There is no cure for neurocutaneous syndromes. Management depends on the individual child’s needs and requires input from a multidisciplinary team:


See Disorders of Development chapter.