Sonographic and pathological features of callosal hypoplasia in non-ketotic hyperglycinaemia.
case_report · Level V
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- Record sourced from PubMed, PMID 2201267.
- Also identified by PMC identifier 1590203.
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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.
Medical subject headings
- Agenesis of Corpus Callosum
- Amino Acid Metabolism, Inborn Errors
- Glycine