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Case Reports
. 1990 Jul;65(7 Spec No):670-1.
doi: 10.1136/adc.65.7_spec_no.670.

Sonographic and pathological features of callosal hypoplasia in non-ketotic hyperglycinaemia

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Case Reports

Sonographic and pathological features of callosal hypoplasia in non-ketotic hyperglycinaemia

U K Wariyar et al. Arch Dis Child. 1990 Jul.

Abstract

A boy was born at 36 weeks' gestation weighing 2450 g. Though his Apgar score was 9 at birth, by the age of 48 hours he required artificial ventilation. He was deeply unconscious with complete lack of muscle tone, and non-ketotic hyperglycinaemia associated with secondary hypoplasia of the corpus callosum was confirmed by biochemical tests. The cranial ultrasound scan features correlated well with the neuropathological findings and may be helpful in the early detection of this incurable condition.

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