Computers in paediatrics. 3. Genetic counselling for autosomal dominant conditions.
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Biomedical subjects
Publications and source records attributed to W C Yip.
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An unusual fatal congenital myopathy in a Chinese female infant is described. Muscle biopsy showed type I fibre smallness with central nuclei and focal decrease in oxidative enzyme activities affecting mainly larger type II fibres. Longitudinal sections from glutaldehyde-fixed araldite-embedded material stained with toluidine blue revealed multiple small foci of myofibrillar degeneration (multicores) along the muscle fibres. Electron-microscopic examination confirmed the presence of multicore lesions affecting mainly the larger fibres. In addition, there were definite degenerative changes involving the smaller fibres with central nuclei. The degenerative process started around the pericentronuclear zones with diffuse extension along the whole length of the muscle fibres resulting in severe atrophy. These degenerative changes were similar to those described in pericentronuclear myopathy. It is therefore suggested that the patient might have either had 2 co-existing myopathies viz. multicore disease and pericentronuclear myopathy or a single entity with combinations of features which had not hitherto been described.
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Twenty-four patients with infantile hypertrophic pyloric stenosis were admitted to the University Department of Paediatrics, Singapore General Hospital, from 1974 to 1980 were reviewed. The male to female ratio was 2.4:1. The age of onset of vomiting ranged from birth to 7-week. All except 2 had palpable pyloric tumour. Barium meal studies were required in these two patients to confirm the diagnosis preoperatively. Significant abnormal laboratory findings on admission were: metabolic alkalosis (71%), hypochloraemia (63%), hyponatraemia (54%), hypokalaemia (21%), haemoconcentration (39%) and pre-renal azotaemia (17%). Two-thirds of the patients were operated within 24 to 48 hours after intravenous correction of fluid deficit and electrolyte imbalance. Common complications after Ramstedt's pyloromyotomy were vomiting and fever which were, however, mild and subsided in two to three days. Serious complications were uncommon and there was no mortality in this series. Majority of the patients were discharged well after one to two weeks of hospitalization.
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