Sonographic and pathological features of callosal hypoplasia in non-ketotic hyperglycinaemia.
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.
Children's Department, Newcastle General Hospital, Newcastle upon Tyne.
U K
UK
Wariyar
R J
RJ
Welch
D W
DW
Milligan
R H
RH
Perry
D061085:Agenesis of Corpus Callosum; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000473:pathology*; D003337:Corpus Callosum / Q000473:pathology; D005998:Glycine / Q000097:blood*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014463:Ultrasonography
D005998:Glycine