J Pediatr Epilepsy 2017; 06(03): 161-163
DOI: 10.1055/s-0037-1604293
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Neuroimaging in Neonatal Nonketotic Hyperglycinemia

Mahesh Kamate
1  Division of Paediatric Neurology, Department of Paediatrics, KLE University, J. N. Medical College, Belgaum, Karnataka, India
,
Virupaxi Hattiholi
2  Department of Radiology, KLE University, J. N. Medical College, Belgaum, Karnataka, India
› Author Affiliations
Further Information

Publication History

30 December 2016

19 June 2017

Publication Date:
19 July 2017 (eFirst)

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.