Benign acute childhood myositis.

Four school children, aged 6 to 9 years, had acute postinfectious myositis. The prodromal illness usually involved the upper respiratory tract, but gastrointestinal symptoms were also seen. Fever and nonspecific malaise were characteristic. After cessation of the illness, myalgia involved the calves and thighs. Arm and neck muscles were less frequently affected. Weakness was less marked than muscle pain. Serum creatine phosphokinase (CPK) was markedly increased in all cases. Myalgia and CPK levels subsided in less than a week, although one child was not back to normal for 4 weeks. Two children had electromyography, and patchy myopathic changes were found. Viral studies were not helpful in any of the cases.

Childhood chronic inflammatory demyelinating polyneuropathy: clinical course and long-term outcome.

We reviewed the clinical history, electrophysiologic and pathologic findings, and response to therapy of 16 children with chronic inflammatory demyelinating polyneuropathy. The majority presented with lower limb weakness. Sensory loss was uncommon. The illness was monophasic in seven children, relapsing in six, and three had a slowly progressive course. All patients were treated with immunosuppressive agents. In 11, the initial treatment was prednisolone. All had at least a short-term response but five went on to develop a relapsing course. Intravenous immunoglobulin was the initial treatment in four patients. Three responded rapidly, with treatment being stopped after a maximum of 5 months. In resistant chronic inflammatory demyelinating neuropathy, in addition to prednisolone and immunoglobulin, plasma exchange, azathioprine, cyclosporine, methotrexate, cyclophosphamide and pulse methylprednisolone were tried at different times in different patients. On serial neurophysiologic testing slowing of nerve conduction persisted for long periods after clinical recovery. Follow-up was for an average of 10 years. When last seen 14 patients were asymptomatic, two having mild residual deficits. Childhood chronic inflammatory demyelinating neuropathy responds to conventional treatment and generally has a favourable long-term outcome.

Brain-stem encephalitis caused by Epstein-Barr virus.

A case of brain-stem encephalitis with strong serologic evidence of acute Epstein-Barr virus infection is described. Recovery was rapid without treatment, but mild neurologic sequelae were seen at 6-month follow-up. Epstein-Barr virus infection in childhood may be asymptomatic and heterophil antibody negative. Encephalitis is an unusual but well-recognized complication of Epstein-Barr virus infection, but localized brain-stem involvement, to our knowledge, has not been previously described.

ACTH treatment in intractable seizures of childhood.

Between 1980 and 1989, 21 children suffering from intractable seizures other than infantile spasms were treated with intramuscular ACTH at the Children's Hospital Camperdown. Five patients had two courses of ACTH therapy, 24% of patients had a good response (group A), 56% responded transiently (group B) and 20% did not respond (group C). Group A had normal development and no neurological deficits prior to seizures. A favourable response was not observed in patients with partial seizures, 90% of the patients who responded had a recurrence of seizures. Mean time to recurrence was 9.0 +/- 7.3 months in group A and 1.6 +/- 2.0 months in group B. Hypokalaemia, hypertension and infection were found in 42.9%, 33.3% and 19.1% respectively. ACTH also had effects on concurrent anti-epileptic drug levels.

Influenza A encephalitis with movement disorder.

Influenza A is an uncommon but well-recognized cause of viral encephalitis in childhood, occurring most commonly during community influenza outbreaks. The authors report four cases of influenza A encephalitis that occurred during an Australian epidemic in 1997-1998. Choreoathetosis during the acute phase of infection or basal ganglia involvement on neuroimaging was observed in three of the four patients. These findings in pediatric encephalitis are suggestive of influenza A infection and may guide investigation and early diagnosis.

Anterior horn cell disease and olivopontocerebellar hypoplasia.

To date, fewer than 30 cases of anterior horn cell disease with associated olivopontocerebellar hypoplasia have been reported. We describe five patients and review the literature on this uncommon disorder. In addition to a syndrome of progressive spinal muscular atrophy similar to that seen in Werdnig-Hoffmann disease, this disorder is characterised by hypoplasia of the olivary nuclei, pons, and cerebellum. Additional clinical features may include dysmorphism, abnormal eye movements, stridor, congenital joint contractures, and enlarged kidneys. Pontocerebellar hypoplasia may be associated with posterior fossa cystic malformations, cerebral atrophy, and a demyelinating neuropathy.

Computerised tomography in the leucodystrophies.

11 patients with a diagnosis of leucodystrophy are reported. In 9 the CAT scan was abnormal and showed areas of markedly decreased density in the white matter. 3 of these patients had adrenoleucodystrophy. In 2, contrast enhancement at the anterior borders of the low density areas was present. The 2 negative scans were from children with metachromatic leucodystrophy; one had an atypical form of the disease and the other had the biochemical defect, but was still presymptomatic and had no neurological deficit.

Metachromatic leucodystrophy in children.

Nine children with a proven enzymological diagnosis of metachromatic leucodystrophy are described. All except one have shown a progressive course with the clinical features of peripheral neuropathy, corticospinal tract involvement and dementia. Seizures and cerebellar signs also may occur. Abnormalities in nerve conduction, CSF, sural nerve biopsy and CT scan are described. One patient presented with language regression but after 5 years still had not developed other features of MLD.

Neonatal myotonic dystrophy.

Six cases of congenital myotonic dystrophy are described. Only two survived the neonatal period. There were seven neonatal deaths in the immediate families and six reported miscarriages. Of the two survivors one is moderately retarded and the other at 9 months is at the developmental level of 5-6 months. Facial diplegia and depressed deep tendon reflexes are clues to the presence of neonatal myotonic dystrophy and the diagnosis is confirmed by examining the mother who will show some of the features of the disorder. Infants may also present with non-specific respiratory problems, hypotonia and poor sucking.

Adrenoleucodystrophy: a study of four patients.

4 unrelated boys suffering from adrenoleucodystrophy (ALD) are reported. All presented with a cerebral degenerative disorder manifested by behaviour change, dementia, progressive visual loss and spasticity. 1 child showed an excess of skin pigmenation but no other clinical features of adrenal insufficiency were present. An ACTH stimulation test indicated adrenal insufficiency in 1 patient. In the 3 patients with a normal response to ACTH stimulation, 2 had elevated resting plasma ACTH levels, and the other showed typical inclusins in the cells of the adrenal cortex when examined by electron microscopy. Nuclear brain scans were abnormal in all 4 patients. 3 patients had a CAT scan and in all a diffuse decrease in density was shown throughout the cenebral white matter. 2 patients had a zone of contrast enhancement adjacent to the low density areas. In boys under the age of 10 years ALD is the commonest cerebral degenerative disease after subacute sclerosing panencephalitis.

Cystinuria and its relationship to mental retardation.

Urine specimens from 2,073 mentally retarded children have been analysed for their amino acid content, with the aim of determing the relationship of cystinuria and mental retardation. No children homozygous for cystinuria were identified, but 50 heterozygous children were found. This heterozygote incidence is 13 times that expected in our general population.

Moyamoya disease: presentation and treatment of two cases by surgery.

Stroke prophylaxis in patients with moyamoya disease has not been described previously in Australia. Two cases are presented in which superficial temporal to middle cerebral arterial bypass has been successful in halting the progress of the disease. The presentation, investigation and management of this occlusive vasculopathy are discussed.

Clinical features of conversion disorder.

This study reviewed the case notes of 52 children diagnosed as suffering from hysterical conversion during admission to a paediatric teaching hospital over a 10 year period. The disorder was rare below 8 years of age and girls outnumbered boys three to one. Altogether 75% of the children presented during spring and summer; at the time of end of year exams and the beginning of the new school year. The presentation was usually polysymptomatic with gait disturbance being the main complaint in 36 children. Sensory abnormality, predominantly pain, was present in 40 children; this indicates a strong association between psychogenic pain and conversion disorder in children. At discharge 32 were completely recovered or had appreciably improved. There was a core group that presented particular difficulties with diagnosis and showed little positive response to treatment.

Amoebic meningitis also occurs in NSW.

The clinical, pathological and laboratory findings of a 3-year-old boy with proven primary amoebic meningo-encephalitis are described. The EEG showed changes of acute cortical necrosis lateralised to one temporal lobe and was similar to that described with Herpes simplex encephalitis. CT scan findings indicated acute cortical inflammation and basal arachnoiditis. The disease should be suspected in the context of acute pyogenic meningitis when no organisms are isolated. Treatment with amphotericin-B, miconazole and rifampicin has been effective in previously reported patients.

Benign intracranial hypertension in childhood: a review of 23 patients.

Twenty-three patients with benign intracranial hypertension (BIH) were seen at the Royal Alexandra Hospital for Children, Sydney over an 18 year period to 1988. Age at presentation ranged from 6 months to 13 years and 5 months. The female to male ratio was 2.3:1. The aetiological factors (sometimes multiple) included: chronic middle ear infection, 30%; dural sinus thrombosis, 22%; head injury, 13%; Vitamin A overdosage, 4%; tetracycline exposure, 4%; and no apparent cause, 43%. Headache was the most common presenting symptom occurring in 91% of patients, followed by vomiting in 65% and blurred or double vision in 57%. Papilloedema occurred in 96% of patients, abducens palsy was noted in 48% and visual impairment in 45%. All patients improved clinically after treatment, one with lumbar puncture only. Of 17 patients treated with steroids, 10 patients recovered and seven patients went on to lumboperitoneal shunt. Two patients recovered with steroid and diuretic treatment. Of two patients initially treated with diuretics only, one recovered and one subsequently required a shunt. Only one patient was initially treated with a lumboperitoneal shunt. Three of the shunted patients had shunt block requiring revision. None had permanent visual loss or other significant sequelae. The visual prognosis of BIH in childhood is good. In view of the relatively high complication rate of steroids and shunting, a controlled comparison of steroid vs acetazolamide/diuretic therapy should be undertaken.

Wilson's disease in childhood. A plea for increased awareness.

Wilson's disease, a hepatic-based metabolic disease, is treatable with a relatively good prognosis if diagnosed before severe complications occur. It has been diagnosed in eight children (five boys, three girls) in 11 years at our institution. The presenting symptoms were hepatic in four children, neurological in one and non-specific in one, whereas two children were asymptomatic siblings of index patients. The mean age at diagnosis was 8.9 years (range, 4.7-11.7 years). Two boys died soon after diagnosis: one had fulminating hepatic failure and the other, who had neurological disease, died of aspiration pneumonia. Six children are well, with regression of clinical disease, two to 10 years after the initiation of chelation therapy by mouth. The diagnosis was delayed for all symptomatic patients because of the disease's rarity, its nonspecific early manifestations and a low index of suspicion for the disease on the part of physicians.

The neurological syndrome of infantile cobalamin deficiency: developmental regression and involuntary movements.

Developmental regression is the presenting symptom of most infants with cobalamin (Vitamin B12) deficiency. We present a report of three infants with cobalamin deficiency in which the infants also developed a movement disorder. In each case the mother was a vegetarian and the infant was exclusively breast-fed. In two of the infants, a striking movement disorder consisting of a combination of tremor and myoclonus particularly involving face, tongue, and pharynx appeared 48 h after the initiation of treatment with intramuscular cobalamin. This was associated with marked changes in plasma amino acid levels. Paradoxically, the onset of the movement disorder coincided with overall neurological improvement. The third infant had a persistent focal tremor, which appeared before the commencement of treatment. The movements slowly abated during a 3-6 week period. The presence of a movement disorder in cobalamin deficiency has received less attention than other features, but in a mild form is probably common. It may offer an early clue to the diagnosis before the onset of profound neurological deterioration. The cause of the severe movement disorder that can appear after treatment is not known.