title: Parieto-occipital encephalomalacia in neonatal hyperammonemia with ornithine transcarbamylase deficiency: A case report.
abstract: Urea cycle disorders are congenital metabolic disorders that often cause episodic hyperammonemia. Neuroimaging in episodic hyperammonemia demonstrates several patterns of brain injuries, including focal lesions in the lentiform nucleus, insula, cingulate gyrus, and perirolandic fissure, as well as diffuse cerebral edema. In cases with neonatal onset of hyperammonemia, similar lesions have also been reported. We herein report a boy with severe neonatal hyperammonemia caused by ornithine transcarbamylase deficiency. He presented with parieto-occipital encephalomalacia, which resembles severe neonatal hypoglycemia on magnetic resonance imaging. This radiological finding may indicate parieto-occipital vulnerability not only to hypoglycemia but also to hyperammonemia.
authors.affiliation: Department of Pediatrics, Neonatology and Congenital Disorders, Nagoya City University Graduate School of Medical Sciences, Mizuho-cho, Mizuho-ku, Nagoya, Aichi, Japan. oknsoknsokns@yahoo.co.jp
authors.forename: Tohru
authors.initials: T
authors.lastname: Okanishi
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Ito
authors.forename: Yoko
authors.initials: Y
authors.lastname: Nakajima
authors.forename: Koichi
authors.initials: K
authors.lastname: Ito
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kakita
authors.forename: Yasumasa
authors.initials: Y
authors.lastname: Yamada
authors.forename: Satoru
authors.initials: S
authors.lastname: Kobayashi
authors.forename: Naoki
authors.initials: N
authors.lastname: Ando
authors.forename: Hajime
authors.initials: H
authors.lastname: Togari
mesh_terms: D004678:Encephalomalacia / Q000209:etiology / Q000473:pathology; D006801:Humans; D022124:Hyperammonemia / Q000150:complications / Q000209:etiology / Q000473:pathology; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009778:Occipital Lobe / Q000473:pathology*; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000150:complications* / Q000473:pathology; D010296:Parietal Lobe / Q000473:pathology*