triggers: such as diet, dehydration, overtiredness, and stress. and domperidone: these can be tried initially, at the onset Diagnostic criteria for pediatric migraine Migraine without aura A At least 5 attacks ful \201 lling B \200\223D B Headache attack la sting 1 \200\22348hr C Headache has at least two of the following: \200 \200 \200 \200 D During headache, at least one of the following: \200 \200 Bilateral (temporal or frontal) or unilateral location Pulsating quality Moderate to severe intensity Aggravation by routine physical activity Nausea and/or vomiting Photophobia and/or phonophobia Migraine with aura A Idiopathic recurring disorder: headache that usually lasts 1 \200\2234 8hr B At least two attacks ful \201 lling C C At least three of the following: \200 One or more fully reversible aura symptoms indicating focal cortical and/or brainstem dysfu nction At least one aura developing gradually over >4min, or two or more symptoms occurring in succession No aura lasting >60min Headache follows in <60min \200 14_McClure_14.indd 518 11/14/2012 3:36:07 PM BELL \200\231S PALSY 519 Bell \200\231s palsy \200 Acute paralysis of the muscles of facial expression may be unable to close the eye on the a ffected side. Normally unilateral, but may be bilateral lower motor neuron lesion. to oedem a of the facial nerve as it passes through the temporal s \200 bone. Etiology \200 Idiopathic. \200 Varicella and other viruses. \200 Borrelia burgdorferi (Lyme disease), particularly if bilateral. Examination \200 Check: hyperacusis. Full systemic examination: vasculitides. Full neurological examination: which would exclude an idiopathic Bell \200\231s palsy. whether other branches of the facial nerve are affected, e.g. in particular, look for signs of leukemia and look for other signs, the presence of Investigation \200 \200 \200 FBC and \201 lm (leukemia). Varicella titres. Borrelia investigation, in suspicious cases , only after discussion with microbiology as this is a dif \201 cult infection to either r efute or con \201 rm. Treatment \200 Steroids: opinion is to use 2mg/kg (maximum 60mg) prednisolone, once daily for 5 days if the symptoms are less than 7 days old. Aciclovir 10 days, irrespective of va ricella status, may be useful. evidence for the use of steroids is limited, but the general : recent evidence indicates that oral aciclovir (40mg/kg/day) for Prognosis Most children will either recover fully or recover to a good degree. When this do es not occur after 6mths, referral for facial nerve grafting is appropriate. 14_McClure_14.indd 519 11/14/2012 3:36:08 PM CHAPTER 14 Neurology 520 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 au to- immune demyelination, it is similar to multiple sclerosis- although mono- phasic. ADEM produces multiple in \202 ammatory lesions in the brain and spinal cord, particularly in t he white matter. Usually these are found in the subcortical/central white matter and cortic al gray-white junction of both cerebral hemispheres, cerebellum, brainstem, and spinal cord , but other areas including the basal ganglia may also be involved. Presentation \200 \200 \200 The average age around 5 \200\2238yrs old. Abrupt onset and a monophasic course. Symptoms u sually begin 1 \200\2233wks after infection or vaccination and include fever, headache, dro wsiness, coma, and seizures. Average time to maximum severity about four and a half days. A dditional symptoms include hemiparesis, paraparesis, and cranial nerve palsies. \200 Diagnosis This is based on \201 nding typical changes on MRI- as above in the subcor- tic al/central white matter, cortical gray-white junction, cerebellum, brain- stem, 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. Fig. 14.3 MRI head scan of child with ADEM on FLAIR sequence, which shows the subcortical/c entral white matter, cortical gray-white junction lesions well. 14_McClure_14.indd 520 11/14/2012 3:36:08 PM ACUTE DISSEMINATED ENCEPHALOMYELITIS 521 Treatment It is important to exclude other causes of encephalopathy (b pp.72 \200\22379, 55 2). Then supportive measures such as hydration/feeding, bulbar func- tion and respiration s hould be instituted. Pulsed intravenous methylpred- nisolone is widely recommended as de \201 nitive 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 com- mon as children approach adulthood. It presents with demyelinating plaques, which differ from ADEM in their distribution- more periventricu - lar white matter, and with much less encephalopathy, seizures, and coma, but more focal n eurological signs. 14_McClure_14.indd 521 11/14/2012 3:36:08 PM CHAPTER 14 Neurology 522 Stroke in childhood Cerebrovascular stroke \200\224although commonly presenting with congen ital hemiplegia \200\224is rare in childhood, but it does cause signi \201 cant morbidity. The cause can be arterial-ischaemic, haemorrhagic, or venous in origin. The majority of ca ses will have a likely cause identi \201 ed on history and/or examination. The main causes are: \200 \200 \200 \200 sickle cell disease; congenital cardiac defects; cerebral infection; trauma (arterial disse ction). Management Children with stroke will need initial attention to ABC (see b p.46) and treatme nt of acute conditions such as mastioditis/meningitis before early transfer to a specialist unit. Investigation Once stable all children will require brain imaging \200\224preferably magnet - ic resonance imaging and angiography of both cerebral and neck vessels, rather than CT sc an (although CT will show the distribution of injury and exclude hemorrhage). Even with a k nown cause such as trauma, all child- ren 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 center. Subsequent management, although acute, would be undertaken with the same team and aims as that outlined for cerebral palsy. 14_McClure_14.indd 522 11/14/2012 3:36:08 PM STROKE IN CHILDHOOD 523 Investigation for stroke Blood: hematology \200 \200 FBC, ESR: polycythaemia Thrombophilia screen, \201 brinogen: thrombophilia Blood: biochemistry \200 \200 \200 \200 \200 \200 \200 \200 \200 Electrolytes, magnesium Liver function tests CRP: in \202 ammation Plasma lactate and CSF lactate: Fasting glucose: Fasting lipid screen: Thyroid function tests: Ammonia: Homocystei ne (free and total): methyltetrahydrofolate reductase (MTHFR) de \201 ciency can also be p icked 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 fola te, and vitamin B12: iron de \201 ciency and other nutritional disorders Plasma amino acid s: Carnitine (acyl, free, and total): mitochondrial disorders diabetes hyperlipidaemias Hashimoto thyroiditis/encephalopathy urea cycle disorders \200 aminoacidurias B-oxidation defects Urine: biochemistry Urine organic and amino acids: homocystinuria, MTHFR de \201 ciency Blood immunology and infection screen \200 \200 immunode \201 ciency IgG, IgM, IgA: Titres for infection screen of: Mycoplasma, Chlamydia, Helicobacter, Borreli a, Brucella; viruses (echo, Coxsackie, Epstein \200\223Barr, Varicella, hepatitis B) ASOT, Anti DNAase B: ANA, ANCA, autoimmune disease \200 streptococcal disease anticardiolipin and antiphospholipid antibody: SLE and Imaging studies \200 vascular Magnetic resonance imaging and angiography of head/neck: disease, particularly dissection a nd thromboembolism Echocardiogram: endocarditis and other cardiac disease 14_McClure_14.indd 523 11/14/2012 3:36:08 PM CHAPTER 14 Neurology 524 Acute abnormal movements Ataxia An abnormality in gait that is wide-based, staggering, and unsteady may have a number of causes including: \200 \200 \200 \200 \200 \200 \200 \200 \200 Posterior fossa tumors. Inborn errors of metabolism. Poisoning. Brainstem encephalitis. Pos t-infectious or autoimmune: Trauma. Vascular disorders. Congenital malformations: Neurologi cal: (at), adrenoleucodystrophy, Friedreich \200\231s ataxia (FrA). Conversion disorders. acute cerebellar ataxia. Dandy \200\223Walker. olivopontocerebellar degeneration, ataxia \200\223telangiectasia Clinical review \200 increased separation of syllables and varied volume \200\224scanning Speech: speech. Neurology: nystagmus with eye movement. Systemic: diabetes in Fanconi \200 \231s anemia (FA). sensory disturbance in proprioception, positive Romberg, immunode \201 ciency in AT; hypertrophic cardiomyopathy and Investigation Cerebral imaging, if cause not found plasma and CSF analysis for the above, w ith particular reference to assessing for varicella, streptococcal and other infections, an d 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 inc lude: \200 Drugs: intensive care. Systemic illness: Genetic: of metabolism, benign familial chorea. Ot her: anticonvulsants, psychotropics, benzodiazepine withdrawal after \200 Sydenham \200\231s chorea, SLE, hyperthyroidism. Huntington \200\231s chorea, glutaric aciduria and other inborn errors pregnancy. Streptococcal infection Sydenham \200\231s chorea is often associated with streptococcal in fection. It occurs in older children particularly girls. It is frequently misdiagnosed as b eing psychogenic, particularly as it may be associated with emotional liability. It is char acterized by the onset of a mild to moderate chorea (may be unilateral) that is more distal , in a well child (possibly with recent infection). \200 \200 About 20% of rheumatic fever cases include chorea. Treatment: daily prophylaxis. high-dose penicillin V 500mg, oral, bd., for 10 days; then 14_McClure_14.indd 524 11/14/2012 3:36:08 PM ACUTE ABNORMAL MOVEMENTS 525 Sodium valproate is the \201 rst line treatment, if inborn errors of metabolism are unlik ely, as it can cause metabolic decompensation. Benzodiazepines, phenothiazine, haloperidol may control the movement. Improvement may occur over weeks to months. Pediatric autoimmune neuropsychiatric disorder associated with streptococcus (PANDAS) PANDAS has speci \201 c diagnostic criteria and is accompanied by behav- ioural problems, e.g. obsessive \200\223compulsive disease and tics. There is some debate as to whether it r epresents a separate entity. Conversion or \200\230psychologically mediated \200\231 disorders A high percentage of chi ldren older than 7yrs who present with rapidly progressing and bizarre neurological symptom s, with no sign of system- ic illness, and retained consciousness have a conversion disorde r. These children are more likely to be teenage girls. However, it is important that this f act should not prejudice your clinical assessment \200\224major oversights and mistakes can be made. These children tend to be well and have signs that cannot be explained anatomical ly, e.g. paralysis of one leg and the contralateral arm, sensory disturbances that do not \201 t a typical neuropa- thy, and visual phenomena. The initial diagnosis should be that of a genuine physical disorder until all assessments (medical, psychological, and social) are complete. (cid:1) Examination must be thorough. You may reveal inconsistent signs such as an inabilit y 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 o f a false positive Imaging Sophisticated imaging is at the physician \200\231s discretion, but the fam- ily is likely to become very distressed if a psychological diagnosis is given while there are out standing investigations. Therefore correlate all the rel- evant information, decide if it i s either psychological or a physical disorder. If unsure refer for expert opinion. Treatment If con \201 dent it is psychological follow the strategy for PDPE (b pp.503 \200 \223504). 14_McClure_14.indd 525 11/14/2012 3:36:08 PM CHAPTER 14 Neurology 526 Subdural hemorrhage in a child under 2 years Children under 2yrs presenting with subdural h emorrhage (SDH) are an important cause of morbidity and mortality. A signi \201 cant numbe r will have been caused by purposeful, in \202 icted, trauma, as part of an acceleration/ deceleration injury. In the investigation of non-accidental head injury (NAHI) it is import ant to differentiate in \202 icted injury and other causes of SDH. This section aims to he lp doctors and other staff thoroughly investi- gate the child presenting with SDH. \200 This section assumes that the child is stable clinically (airway, breathing, circulation) a nd relevant teams are being contacted for further opinions. The investigations will take at least a week to perform, therefore there is no \200\230hurry \200\231 to produce de \201 nitive report/guidance for other professionals until results are available. Do not use the term \200\230shaken baby syndrome \200\231. Shaking is a possible mechanism of injury, an d not a syndrome, and should be considered in the context of other mechanisms of non-accide ntal 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 in to the subdural space is the hallmark of non-accidental head injury. When infants who devel oped a SDH after infection or neurosurgical intervention are excluded, in retrospective stu dies, 24 \200\22382% of cases with SDH were highly suggestive of abuse in different series. Differential diagnosis of SDH \200 \200 Trauma, traumatic labor. Neurosurgical complications, cranial malformation (aneurysm, arach noid cyst). Cerebral infections. Coagulation and hematological disorders. Metabolic (glutar ic aciduria, galactosaemia). Biochemical disorders (hypernatraemia). \200 \200 \200 Symptoms/signs of acute SDH \200 Encephalopathy (irritability, crying, inconsolability, unsettled behavior, lethargy, mening ism, decreased or increased tone, seizures, impaired consciousness). Vomiting, poor feeding . Breathing abnormalities, apnoea. Pallor, shock. Tense fontanelle. Early post-traumatic se izures occur more frequently in in \202 icted than in non-in \202 icted head injury. \200 \200 \200 \200 14_McClure_14.indd 526 11/14/2012 3:36:08 PM SUBDURAL hemorrhage IN A CHILD UNDER 2 YEARS 527 Symptoms/signs of subacute or chronic SDH \200 \200 \200 Expanding head circumference. Vomiting, failure to thrive. Neurological de \201 cit/s. Retinal hemorrhages ( \200\230haemorrhagic retinopathy \200\231) \200 Although strongly associated with NAHI, retinal hemorrhages are not speci \201 c for the d iagnosis, nor can they be dated with precision. In NAHI haemorrhagic retinopathy can typica lly affect all retinal layers. It shows different ages and stages of resorption. It can be found throughout the retina to the ora serrata. Vitreous hemorrhage is frequent. Retinal he morrhage may be unilateral or asymmetric in terms of number and distribution, however, some victims have none at all (15 \200\22325%). In severe life threatening trauma (motor cycle, great height) retinal hemorrhage is found in less then 3%. Retinal hemorrhages 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 majorit y. A consultant ophthalmologist with expertise in the assessment of the eyes in children su spected to have NAHI should examine the child. \200 Fractures \200 Since skull fractures may be missed by bony windows on CT, a plain skull \201 lm should b e obtained. Skull fractures do not heal by callus formation and so dating of an injury is e specially dif \201 cult. If the edges are round and smooth it is likely to be more than 2w ks 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 metaph yseal fracture caused by twisting the limb. It can also occur from birth injury (e.g. breec h extraction). The \200\230bucket handle \200\231 and \200\230corner \200\231 type metaph yseal fractures are very suggestive for NAI. It is very important to target X-ray imaging o n the metaphyses, as wider imaging can miss fractures (see b pp.758, 923, 1000). Brain imaging \200 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 \200\231s of different signal charact eristics, posterior and middle cranial fossa bleeds, and parenchymal changes in the brain. CT scans may miss small subdural bleeds. Blood along the tentorium, interhemispheric hemorr hages, and SDHs in multiple sites or of different densities were almost exclusively seen in NAI. While acute hemorrhage may be isointense with brain on T1-weighted images, acute or s ubacute blood is more likely to be moderately hyperintense on these sequences. 14_McClure_14.indd 527 11/14/2012 3:36:08 PM CHAPTER 14 Neurology 528 T2-weighted sequences may also show high intensity, although this may be dif \201 cult to separate from the adjacent signal in CSF. The FLAIR sequence suppresses the signal from nor mal CSF, allowing the high signal hemorrhage to be visualized. In the early acute stage whe n the blood clot is solid it may not be impressive. However, as it breaks down by \201 br inolysis 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 captu re the evolution of different lesions. Within 2 \200\2234wks contusions and tears are at th eir most prominent. Encephalomalacia may be apparent and even early atrophy. By 2 \200\2233 mths atrophy is well established. Areas of contusion and hypoxia- ischaemia have evolved in to cysts, and SDH should be clearing. A neuroradiologist with experience in NAHI should rep ort/review all scans. Fig. 14.4 CT head scan of subdural hemorrhage, overlying right frontal lobe, but extending posteriorly and along the falx. Highly suggestive of NAHI. This child also had extensive re tinal hemorrhages and was found to have fractures consistent with in \202 icted injury on skeletal survey. Coagulation and hematological disorders \200 For the exclusion of thrombocytopenia, anemia and malignancy: do platelet count, FBC and bl ood \201 lm. Renal and liver function tests rule out these acquired coagulation defects. The \200\230coagulation screen \200\231 comprises of PT, APPT, Thrombin time, Fibrinogen a nd \200\230Mixing studies \200\231 (50:50 mix) to exclude inhibitor. Factor assays are ava ilable for factor II, V, VII, VIII, IX, XI, and \200\230von Willebrand s disease \200\231. An 2 antiplasmin de \201 ciency is diagnosed by a thromboelastogram (TEG). Platelet fu nction disorders, vitamin C 14_McClure_14.indd 528 11/14/2012 3:36:08 PM SUBDURAL hemorrhage IN A CHILD UNDER 2 YEARS 529 de \201 ciency, Factor XIII, and collagen disorders are extremely dif \201 cult to diagno se in a child under 2yrs and are very rare conditions. Therefore, investigations for these disorders should only be done after discussion with Pediatric hematologist, and on good cli nical grounds. Glutaric aciduria type 1 (GA1) The exclusion of GA1 is fraught with dif \201 culty. The be st 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 frac- tures, or ma licious injuries these would not have been caused by GA1. In such an instance the investiga tions for organic acids, acylcarnitines, or even a skin biopsy are inappropriate. Management \200 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. Ske letal survey. Clotting assessment (see Coagulation and hematological disorders, b p.528). T ake urine to store in case of need to check organic acids. Arrange ophthalmology assessment . \200 \200 \200 Unless sure that there has been accidental trauma, arrange a full confer- ence around the c hild with relevant professionals, including social services, who may invite police attendan ce (their responsibility). Remind them: the investigations will take at least a week to per form, therefore there is no \200\230hurry \200\231 to produce de \201 nitive report/guida nce for other professionals until results are available. 14_McClure_14.indd 529 11/14/2012 3:36:09 PM CHAPTER 14 Neurology 530 Neurocutaneous disorders Tuberous sclerosis complex (TSC) See also b pp.372, 947 and Fig. 1 4.5. \200 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 identi \201 ed: TSC 1 and 2. About 1/3 of cases are inherited, the others de novo mutations. Diagnosis of TSC The diagnosis is made when a child has either 2 major, or 1 major and 2 minor criteria. Major criteria \200 Facial angio \201 bromas \200 Ungual \201 broma \200 Hypomelan otic macules (>3) \200 Shagreen patch \200 Subependymal (subE) nodules \200 subE gian t cell astrocytoma \200 Retinal nodular haematoma \200 Cardiac rhabdomyhomata Minor criteria \200 Pits in dental enamel \200 Rectal polyps \200 Bone cysts \200 C erebral white matter \200\230migration tracts \200\231 \200 Gingival \201 bromas \200 Non-renal haematoma \200 Retinal achromic patch \200 Confetti skin lesions \200 Mul tipale renal cysts Fig. 14.5 T2-weighted MRI scan of the head showing multiple sub-ependymal nodules, lining t he walls of the ventricles. 14_McClure_14.indd 530 11/14/2012 3:36:09 PM NEUROCUTANEOUS DISORDERS 531 Management Treatment is symptomatic depending on the organ-speci \201 c effects of the hae matoma and neoplasms. All cases require expert assessment: \200 \200 \200 Recurrence risk in family members. Symptomatic epilepsies, particularly if West syndrome oc curs. Cardiac rhabdomyomata need to be referred to cardiology support, but if echo/ECG is n ormal, 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 co ntiguous deletion of the neighboring gene. Pulmonary lymphangiomatosis occurs very rarely i n 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-natal ly. Neuro \201 bromatosis See also b pp.441, 662, 836, 946. There are 2 distinct AD disorders, char- acterized by multiple benign tumors of the peripheral nerve sheath. NF1: chromosome 17 The diagnosis is based on having at least 2 of the following: \200 caf au lait macules: >5mm diameter before puberty; >15mm >6 diameter after puberty. Skin fold or axillary freckling. 1 Neuro \201 broma or a plexif orm neuro \201 broma. 1 Lisch nodule in iris. Optic glioma. Skeletal dysplasia. Affected \201 rst-degree relative. \200 \200 \200 \200 \200 The management of this condition is symptomatic and depends on the local effects of the neu ro \201 broma. However, all cases require expert assessment of: \200 \200 \200 \200 \200 recurrence risk in family members (they need assessment annually); neoplasia and optic glio mata; renal artery stenosis; skeletal dysplasia; cognitive performance. 14_McClure_14.indd 531 11/14/2012 3:36:09 PM CHAPTER 14 Neurology 532 NF2: chromosome 22 The diagnosis is based on having 1 major or 2 minor criteria. \200 Major criteria: \200 \200 Minor criteria: \200 \200 \200 \200 \200 unilateral vestibular Schwannoma and \201 rst-degree relative with NF2; bilateral vestibu lar Schwannomas. meningioma; Schwannoma; ependymoma; glioma; cataract. The management of NF2 is complex as the tumors themselves do not need to be removed when id enti \201 ed in many cases, although they may be symptomatic. Sturge \200\223Weber syndrome \200 Leptomeningeal distribution of the \201 rst branch of the trigeminal nerve. Children may be very well, but can have severe focal epilepsies, learning disability, hemiplegia, glauco ma, and transient stroke-like episodes, and severe headaches. Diagnosis: angiomatosis: associated with a port wine naevus in the on facial appearance and CT MRI scan. 14_McClure_14.indd 532 11/14/2012 3:36:09 PM NEUROCUTANEOUS DISORDERS 533 14_McClure_14.indd 533 11/14/2012 3:36:09 PM CHAPTER 14 Neurology 534 Macrocephaly and microcephaly Macrocephaly Macrocephaly is de \201 ned as a head circumfer ence above the 99.6th centile. The majority of such children will have a benign and familia l cause for this condition. However, hydrocephalus and degenerative disorders need to be co nsidered. History \200 \200 \200 Take a full history including developmental progression. Are there any features of autism o r degenerative disorders? Are there signs of raised intracranial pressure? Examination \200 \200 \200 Perform a thorough examination. Plot OFC on a growth chart along with previous measurements . Look at the skin for signs of neuro \201 bromatosis (see b p.836). Findings and investigation \200 Abnormal: investigation. Normal: if the examination is normal, try and compare the child \200\231s head circumference with parental head circumferences. If they are all large, then the likely diagnosis is familial macrocephaly. If the parents \200\231 head circumferences are normal, then the child \200\231s condition is probably benign, but it would be appropr iate to follow measurements for the next 12mths. If there is crossing of centiles then perf orm a CT scan, looking for hydrocephalus. if there are any abnormalities these will need further Some children, boys more than girls, present with macrocephaly, mild developmental delay/hy potonia. If there is nothing else in the history and examination then manage as above. They will, however, need to be inves- tigated for the developmental delay (b pp.564 \200\223565 , 942 \200\223943). Microcephaly See also b p.171. Microcephaly is de \201 ned as a head circumference below t he 0.4th centile. It is associated with a small brain. The majority of these children will have developmental and neurological abnormalities. History \200 Take a full history including developmental progression and infection during pregnancy. Was Guthrie screening done (phenylketonuria)? Examination \200 \200 \200 Perform a thorough examination. Plot OFC on a growth chart along with previous measurements . Look for features of craniosynostosis \200\224spiral CT head if likely. 14_McClure_14.indd 534 11/14/2012 3:36:09 PM MACROCEPHALY AND MICROCEPHALY 535 Investigation \200 \200 Repeat PKU screening. Obtain a karyotype, plasma lactate, maternal and child \200\231s TORC H 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% (auto- somal recessive microcephaly) if no cause is found. Hydrocephalus See also b p.170. Hydrocephalus may be present irrespective of whether there is obstruction to cerebrospinal \202 uid \202 ow. The causes are: \200 Obstructive other tumors. Communicating: (non-communicating): aqueduct stenosis, posterior fossa and meningitis, subarachnoid hemorrhage, IVH. Clinical features \200 History: vomiting; babies usually present because there is concern about head growth (i.e. crossing centiles) and delay in development. Examination: measurements; macrocephaly or bul ging fontanelle in those with open sutures; \200\230sunsetting \200\231 of the eyes; papil loedema; hyperre \202 exia; spasticity; poor head control. cranial imaging looking for enl arged ventricles. Imaging may Diagnosis: also reveal associated congenital abnormalities su ch as Arnold \200\223Chiari malformation. older children may present with a history of headache and plot OFC on a growth chart along with previous Treatment \200 Neurosurgical other surgery urgently. Children with shunt systems in place are at risk of s hunt blockage, infection (e.g. ventriculitis), and subdural haematoma. Acute changes in beh avior, 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. referral for placement of ventricular shunt system or 14_McClure_14.indd 535 11/14/2012 3:36:09 PM CHAPTER 14 Neurology 536 Degenerative disorders There are many disorders that can present with developmental regress ion, that is, \200\230loss of skills \200\231 and/or neurological deterioration, i.e. deve loping new neurological signs, or progressive intellectual deterioration. These signs alway s require intensive investigation. History \200 \200 \200 Full developmental history: Family and social history: Medical history: cardiac, endocrine, respiratory, viscerae. try and exclude autism. with particular emphasis on consanguinity. check for other organ involvement \200\224eyes, hearing, Examination \200 All systems: brain, particularly face and viscera. Neurological examinat ion: this must be thorough. Look particularly for evidence of ataxia, myoclonus, dementia, dystonia, and pyramidal signs. storage disorders often involve other systems besides the Investigations See also b pp.537, 942, 956, 960. History should guide a rational ap- proach to investigation, e.g. a family history of a similar disorder in a girl would make x linke d disorders much less likely. \200 MRI: at the white matter for leucodystrophies and see if there are any structural abnormali ties (Fig. 14.6). Other laboratory investigations: this form of imaging will give the largest yield. Look particularly these are outlined in the Box 14.2. Fig. 14.6 Axial FLAIR sequence MRI head of a boy with adrenoleukodystyrophy showing dramati c signal in the posterior white matter bilaterally, during the acute deterioration seen in this condition. 14_McClure_14.indd 536 11/14/2012 3:36:10 PM DEGENERATIVE DISORDERS 537 Box 14.2 Investigations for developmental regression Blood biochemistry \200 renal failure \200 function tests: liver disease \200 U&E: Liver Plasma (GLUT1) de \201 ciency Plasma Ammonia: Thyroid Urate: Plasma Very Copper Caeruloplasmin: glucose and matching CSF glucose: glucose carrier transportation \200 \200 \200 \200 \200 \200 \200 lactate and matching CSF lactate: mitochondrial cytopathy urea cycle defects function tests: thyroid disease Lesch \200\223Nyhan disease and purine disorders amino acid s: aminoacidopathies long chain fatty acids: peroxisomal disorders level: Menkes disease Wilson disease Special blood investigations \200 \200 Vacuolated WBC and Batten \200\231s disease lymphocytes: Batten \200\231s disease and other storage disorders enzymes including Batten \200\231s enzymes: lysosomal storage disorders Urine \200 and organic acids: organic acidurias, MTHFR de \201 ciency, Amino sulphite oxidase de \201 ciency Urate, purine/nucleotide phosphorylase de \201 cien cy Hydroxybutyric de \201 ciency Mucopolysaccharides: creatinine, purine, and pyrimidine over 24hr: Lesch \200\223Nyhan, acid: succinate semialdehyde dehydrogenase mucopolysaccharidoses Tissue biopsies \200 \200 \200 \200 Liver: Skin Muscle: Rectal: Alper \200\231s disease (choelesterol esteri \201 cation): Niemann \200\223Pick type C mitochondrial disease Batten \200\231s disease Eyes Ophthalmology review: retinitis pigmentosa and other ophthalmological markers of neuro logical disorders e.g. cherry red spots Electrophysiology \200 \200 evoked responses: Batten \200\231s disease Visual EEG: status epilepticus and regular spike wave discharges (e.g. progressive myoclonic epilepsies, such as lafora body, gangliosidose s) 14_McClure_14.indd 537 11/14/2012 3:36:10 PM CHAPTER 14 Neurology 538 Neuromuscular disorders See also the \202 oppy infant (b p.136). In children with neuromu scular problems, \201 rst think about the anatomical site that is affected (Fig. 14.7). \200 \200 \200 \200 \200 \200 b p.539). Brain (see Cerebral insult Spine (see Spinal cord lesions Anterior horn cell (see Periphera l nerve ( Neuromuscular junction ( b p.546). Muscle ( b p.539). b p.540). b p.541). b p.544). Cranial nerves Spinal cord Corticospinal tract from upper motor neuron-spinal lessions, including transver se myelitis Lower motor neuron branching of the spinal cord- neuropatheis and guillain bone syndrome Neuromuscular junction congenital and acquired myasthemia Myotonic Dystrophy Muscular Muscular Dystrophies Myopathies Fig. 14.7 An example of a motor neuron. 14_McClure_14.indd 538 11/14/2012 3:36:11 PM NEUROMUSCULAR DISORDERS 539 Cerebral insult Any brain insult may make a child unreactive and move less. In these child- ren there may be obvious signs of cerebral dysfunction such as enceph- alopathy. Facial mo vement 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 exam ples are Down or Prader-Willi syndromes. Re \202 exes should be present. If there is damag e to the upper motor neuron then there will be spasticity with increased tone and brisk re \202 exes, e.g. cerebral palsy. Spinal cord lesions Spinal tumors and transverse myelitis should produce a rough level, beneath which there will be upper motor neuron signs or a sen sory level or both. Spinal cord tumors are normally associated with a number of signs inclu ding constipation and urinary symptoms. There are particular signs which should always be i nvestigated. When to worry about a spinal cord lesion \200 Neurological signs, particularly when objective, e.g. hypere \202 exia and paresis, at a l evel beneath C1 Back pain with no other signs in children under 11yrs Change in urinary fun ction or bowel habit with back pain in older children \200 Transverse myelitis Quick onset (i.e. in days and sometimes hours) of weakness, and/or anae s- thesia, and/or urinary dysfunction, and/or bowel disturbance, often within a week of a m inor 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 re \202 exes and power for the \201 rst days. However, where the weakness continues there wi ll be a gradual increase in the re \202 exes and tone. Urgent imaging of the cord by spina l MRI with gadolinium required to exclude cord compression, and in many cases will con \201 rm appearances of myelitis. Management \200 admission for monitoring of respiratory status (use FVC; see Immediate b p.49). Review for urinary and GI disturbance. Feeding/swallowing assessment. Early introduc tion of physiotherapy and occupational therapy to avoid joint contracture. Control of pain. Methylprednisolone: least 30min for 3 days) normally used initially, if no response consid er other immune-modulatory therapy. \200 IV treatment (30mg/kg, given over a period of at 14_McClure_14.indd 539 11/14/2012 3:36:11 PM CHAPTER 14 Neurology 540 Anterior horn cell disorders Disorder here produces \202 accid, are \202 exic limb, norm ally sparing the face. Polio \200 \200 Now rare. May still be seen following vaccination, or in immigrants. Long-term, the limb be comes \202 accid and wasted. Spinal muscular atrophies See also b p.945. Con \201 rmation of these conditions includes \201 brillation on EMG and homozygous deletion of survival motor neuron (SMN) gene. \200 0 (neonatal form): very severe, often with arthrogryposis. Type \200 Type 1 (Werdnig \200\223Hoffman): severe with onset in the \201 rst months of life. Typically, there are \200\230bright eyes \200\231, severe hypotonia, \200\230frog-like posture \200\231, are \202 exia, and weakness that is present more in the legs than arms. Normally fatal by 2yrs of age. Type weakness, absent re \202 exes, and scoliosis. Type disturbance, loss of re \202 exes, and low tone. 2: onset in the \201 rst years of life with low tone, peripheral 3: adolescent onset with progressive weakness and gait These disorders will have similar DNA results, so do not make a prognosis on the basis of t he DNA result. They are very complicated, and will need to be reviewed by specialists, with reference to: \200 \200 \200 An accurate prognosis based on clinical assessment. Advice on appropriate therapies e.g. in vasive ventilation for type 1. Multidisciplinary support for occupational, physio and speec h therapies, as well as dietary, respiratory, neurological, psychological and social suppor t. 14_McClure_14.indd 540 11/14/2012 3:36:11 PM PERIPHERAL NEUROPATHIES 541 Peripheral neuropathies Charcot \200\223Marie \200\223Tooth disease (hereditary motor and s ensory neuropathies) This refers to a group of disorders with mainly autosomal dominant inh eritance: \200 The lower limbs with peroneal muscle weakness and atrophy. Also there is L ater, these patients in a glove and stocking distribution. hallmark is progressive distal weakness, initially presenting in the \200 clumsiness and loss of \201 ne motor control. develop sensory disturbances with pins and needles The most common types are: \200 Type conduction studies due to demyelination. Type degeneration. Type Sottas syndrome. Char acterized by very slowed motor nerve conduction velocities. 1: demonstrates reduced conduction velocities on nerve 2: near normal nerve conduction and symptoms due to axonal 3: has an onset much earlier and is sometimes called Dejerine \200\223 The diagnosis of these conditions is based on the clinical picture, nerve conduction studie s, 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 ganglio side-induced differentiation-associated protein (GDAP).