title: Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemia.
abstract: Non-ketotic hyperglycinemia is a disorder of glycine metabolism with severe neurologic regression in the infantile stage, while late-onset non-ketotic hyperglycinemia is a rare form characterized by variable clinical, biochemical, and imaging features. This report describes a boy of late-onset non-ketotic hyperglycinemia presenting with an unusual long tract-like lesion of the spinal cord aside by magnetic resonance imaging. This is the first reported child of non-ketotic hyperglycinemia with abnormal imaging features of spinal cord.
authors.affiliation: Department of Pediatrics, E-DA Hospital and I-Shou University, Kaohsiung County, Taiwan.
authors.forename: Shu-Hao
authors.initials: SH
authors.lastname: Wei
authors.forename: Wen-Chin
authors.initials: WC
authors.lastname: Weng
authors.forename: Ni-Chung
authors.initials: NC
authors.lastname: Lee
authors.forename: Wu-Lian
authors.initials: WL
authors.lastname: Hwu
authors.forename: Wang-Tso
authors.initials: WT
authors.lastname: Lee
mesh_terms: D017668:Age of Onset; D002648:Child; D018450:Disease Progression; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000150:complications*; D056784:Leukoencephalopathies / Q000209:etiology / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D013116:Spinal Cord / Q000378:metabolism / Q000473:pathology*; D013118:Spinal Cord Diseases / Q000209:etiology / Q000473:pathology*