Sonographic and pathological features of callosal hypoplasia in non-ketotic hyperglycinaemia.
- 1 July 1990
- journal article
- research article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 65 (7 Spec No) , 670-671
- https://doi.org/10.1136/adc.65.7_spec_no.670
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.This publication has 8 references indexed in Scilit:
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