Parieto-occipital encephalomalacia in neonatal hyperammonemia with ornithine transcarbamylase deficiency: A case report

Tohru Okanishi, Tetsuya Ito, Yoko Nakajima, Koichi Ito, Hiroki Kakita, Yasumasa Yamada, Satoru Kobayashi, Naoki Ando, Hajime Togari

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)567-570
Number of pages4
JournalBrain and Development
Volume32
Issue number7
DOIs
Publication statusPublished - 01-08-2010
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

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