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

研究成果: Article

3 引用 (Scopus)

抜粋

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.

元の言語English
ページ(範囲)567-570
ページ数4
ジャーナルBrain and Development
32
発行部数7
DOI
出版物ステータスPublished - 01-08-2010
外部発表Yes

All Science Journal Classification (ASJC) codes

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

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