title: Acute hydrocephalus in nonketotic hyperglycinemia.
abstract: We present four patients with typical neonatal onset non-ketotic hyperglycinemia (NKH) who developed hydrocephalus requiring shunting in early infancy. Brain imaging revealed acute hydrocephalus, a megacisterna magna or posterior fossa cyst, pronounced atrophy of the white matter, and an extremely thin corpus callosum in all. The three older patients had profound developmental disabilities. This suggests that the development of hydrocephalus in NKH is an additional poor prognostic sign.
authors.affiliation: Department of Pediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
authors.forename: J L
authors.initials: JL
authors.lastname: Van Hove
authors.forename: P S
authors.initials: PS
authors.lastname: Kishnani
authors.forename: P
authors.initials: P
authors.lastname: Demaerel
authors.forename: S G
authors.initials: SG
authors.lastname: Kahler
authors.forename: C
authors.initials: C
authors.lastname: Miller
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: S L
authors.initials: SL
authors.lastname: Rutledge
mesh_terms: D000208:Acute Disease; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging* / Q000473:pathology*; D020158:Hyperglycinemia, Nonketotic / Q000000981:diagnostic imaging* / Q000473:pathology*; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed