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.

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.

Persistent or severe back pain and stiffness are ominous symptoms requiring prompt attention.

BACKGROUND: Children with severe or persistent back pain and stiffness often have an underlying organic cause but there is a large differential diagnosis, examination may be difficult and the problem is relatively rare in general paediatric practice. These difficulties appeared to lead to delays in diagnosis and management of children with this problem. OBJECTIVES: To provide an approach to the diagnosis and management children with severe or persistent back pain or stiffness based on our clinical experience and the literature. METHODOLOGY: The case histories of 10 children with severe back pain seen by the authors over a 5-year period were reviewed. They were chosen as illustrative examples of the diagnostic and management problems and did not represent a systematic review of all cases seen by the authors over that time. RESULTS: Underlying causes included infection, inflammation, neoplasm, trauma and vascular malformation. Four of the children had spinal cord compression which required urgent decompression. There was one child with a conversion disorder but three children with organic disease were initially felt to have a conversion disorder. Investigations generally proceeded relatively slowly and the problem was not regarded as a semi-urgent situation carrying the risk of permanent paraplegia. Magnetic resonance imaging (MRI) scan of the spine was the investigation of choice. CONCLUSION: Children with severe or persistent back pain and stiffness have a wide variety of underlying causes. The possibility of underlying spinal cord compression should always be considered in children with this presentation. If the diagnosis is not obvious, MRI scan of the spine should be arranged without delay.

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.

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.

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.

Bulbar and pseudobulbar palsy complicating therapy with high-dose cytosine arabinoside in children with leukemia.

Three of 38 children given high-dose cytosine arabinoside therapy developed a previously undescribed complication. Neurological problems are a frequent occurrence in patients given this therapy, particularly cerebellar ataxia, but the development of bulbar and pseudobulbar palsy has not been reported. In two of these cases, it was sufficiently marked for the course of treatment to be curtailed and occurred at a relatively low cumulative dose of the drug. Neurotoxicity can occur at any time using high-dose cytosine therapy.

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.

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.

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.

Serious neurological complications of measles--a continuing preventable problem.

Eight children who presented to two Sydney children's hospitals in 1984 with the neurological complications of measles infection are described. Six of these children have either died or have serious residual neurological abnormalities. Experience in the United States indicates that such complications of measles can be virtually eliminated by a programme of compulsory immunization of pre-school children.

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.

Bilateral optic nerve hypoplasia.

In the past 10 years, 15 children with bilateral optic nerve hypoplasia have been studied at the Royal Alexandra Hospital for Children. There were 5 boys and 10 girls. Nine were first-born and they presented at a mean age of 5 months (range: 4 days to 25 months). Five presented with suspected blindness and 7 with abnormal eye movements (nystagmus or less commonly squint). The other 3 presented because of fits or developmental delay. Eight showed evidence of neural damage--microcephaly, seizures and/or abnormalities of tone. Four appeared to be of normal or near normal intelligence, 6 were mildly retarded and 5 severely so. Two patients had already died, one suddenly. Six of the 7 cases investigated in detail had evidence of hypothalamic pituitary dysfunction. Another one had a minimal hypothalamic abnormality. Four were severely growth retarded and 2 were receiving growth hormone replacement. Two males had micropenis and a girl had precocious puberty with partial diabetes insipidus. Neuroradiological investigations showed an absent septum pellucidum in only 5 cases. Five patients had other major CNS malformations. Five patients had normal CT scans; 3 of these 5 appeared of normal intelligence and all 5 had normal neurological examinations. Bilateral optic nerve hypoplasia is frequently associated with serious brain and endocrine abnormalities.

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.