Arthrogryposis multiplex congenita in Western Australia.

OBJECTIVE: Determination of the prevalence of arthrogryposis multiplex congenita in Western Australia as well as the causes of the condition. Overseas reports varied considerably and no such survey had been conducted in Western Australia. METHODOLOGY: Case names were obtained from various registers and records as well as from private practitioners covering the 14 years birth cohort between 1980 and 1993. The records, and where possible the patients, were seen by one of the authors. Diagnosis was further established through relevant investigation where possible. RESULTS: Thirty cases were identified, giving a birth prevalence of approximately 1 in 12000. In nine cases there were significant abnormalities of the central nervous system, in seven cases anterior horn cell and/or peripheral nervous involvement was the cause and in three there was primary muscle disease. The remaining 11 had various syndromes for which no definite neuropathological lesions could be demonstrated, but most of these had syndromes such as distal arthrogryposis or amyoplasia. Mortality was 37%. Talipes occurred in 23 of 30 cases. Early intervention and, in more severe cases, radical surgical intervention was the management adopted in most cases. CONCLUSION: The birth prevalence of arthrogryposis in Western Australia is somewhat less than that reported in Canada and Finland but somewhat greater than the Edinburgh figures, which appear to be the extremes quoted in the literature. Prognosis is worse in cases with serious central nervous system involvement and/or chest involvement, and better in cases of localised arthrogryposis (e.g. distal), as well as in the specific syndrome of amyoplasia as described by Hall.

Transient global amnesia in a young child.

Unprovoked and unexplained sudden loss of memory and inappropriate behaviour in a 5 year old child is described as fitting into the clinical picture of 'transient global amnesia'. The likely pathophysiology of this condition is discussed with some support for Fisher's suggestion of 'hippocampal-fornical' dysfunction.

The clinical significance of type 1 fiber predominance.

In the course of investigating children with hypotonia, muscle biopsy of the vastus lateralis frequently demonstrates greater than 55% predominance of the aerobic type 1 fibers of "type 1 fiber predominance" (T1FP). The clinical significance of T1FP is not well known. T1FP can be associated with a variety of neurological disorders but a significant proportion has no apparent cause. We followed up 23 children with T1FP to establish whether a neurological disorder subsequently became apparent or whether a distinct clinical entity of T1FP could be identified. Sixty percent of the children were found to have a specific neurological disorder, while 40% did not and may represent a distinct clinical entity. The majority of children with the clinical entity of T1FP improved although some were left with mild motor disability. Such information is important for counseling when patients with T1FP are first assessed.

Fatal hepatic necrosis associated with multiple anticonvulsant therapy.

We report six fatal cases of hepatic necrosis in children associated with multiple anticonvulsant therapy. There was insufficient evidence to incriminate any single drug or combination of drugs, but it is noteworthy that sodium valproate was involved in only one case. We consider that an idiosyncratic metabolic reaction to the anticonvulsants was most likely. In five of the six cases hepatic failure was immediately preceded by a prolonged fit and we speculate that metabolic change from excessive neuronal activity may unmask the hepatotoxicity of anticonvulsants.