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Anorectal manometry and suction biopsy were carried out on 47 children with constipation or soiling, or both. Patients were divided into two groups. Group 1 (37 patients): functional faecal retention, group 2 (10 patients): functional faecal soiling without retention. Ganglion cells or normal acetylcholinesterase staining, or both, was demonstrated in all(More)
A 10-month-old boy presented with dermatitis and alopecia and became severely hypotonic. Screening for urinary organic acids revealed a large quantity of 3-hydroxyisovaleric acid and raised levels of beta-methylcrotonylglycine and 3-hydroxypropionate. Activities of propionyl CoA carboxylase, beta-methylcrotonyl CoA carboxylase, and pyruvate carboxylase in(More)
The biochemical, dermatological and neurological motor disorders of biotinidase deficiency (multiple carboxylase deficiency) show a dramatic response to pharmacological doses of biotin. This condition is characterised by the accumulation of biocytin and depletion of biotin. Neuromuscular function returns to normal with the reversal of the characteristic(More)
Data were collected from children with severe chronic constipation, and the appearance of the anus at presentation was noted. A visibly relaxed sphincter (indicating a degree of reflex anal dilatation) was seen in 20 children out of the 129 in whom this sign was sought. The only differentiating characteristic in this group of children was the greater degree(More)
We report a family in whom a fatal case of medium-chain acyl-CoA dehydrogenase (MCAD; EC 1.3.99.3) deficiency was diagnosed by enzymatic analysis of heart tissue that had been stored for five years. Three healthy siblings underwent subsequent investigation with the 3-phenylpropionic acid loading test. All siblings had been asymptomatic; however, one (age(More)
Of 260 children considered to have been the victims of child abuse or neglect, or both, 149 suffered non-accidental injury, 71 had evidence of growth problems, 87 had developmental and speech delay, and 63 showed evidence of appreciable behaviour disturbance. While the overall prevalence of development and behaviour problems in the series was high there(More)
A case of cerebro-hepato-renal syndrome with some unusual features is reported. The neuropathological findings are described in detail. Electronmicroscopy showed astrocytes in the demyelinated areas of the brain to contain granules composed of laminated osmiophilic material. These structures could be abnormal mitochondria. The parental consanguinity in this(More)