Neuroimaging in Neonatal Nonketotic Hyperglycinemia
- 19 July 2017
- journal article
- case report
- Published by Georg Thieme Verlag KG in Journal of Pediatric Epilepsy
- Vol. 06 (03), 161-163
- https://doi.org/10.1055/s-0037-1604293
Abstract
Nonketotic hyperglycinemia is a fatal disorder of glycine metabolism presenting with intractable epilepsy, hypotonia, and developmental delay in infancy. Diagnostic tests,such as cerebrospinal fluid glycine estimation and genetic diagnostic methods, are not widely available in developing countries and hence many cases are missed or wrongly diagnosed. The magnetic resonance imaging features, such as abnormal signal intensity in the dorsal pons, midbrain, central tegmental tract, cerebral peduncle, and posterior limb of the internal capsule indicate an important clue to the possibility of the disease and help in guiding the treating neonatologist.Keywords
This publication has 3 references indexed in Scilit:
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