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: ジャーナルへの寄稿学術論文査読

3 被引用数 (Scopus)

抄録

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.

本文言語英語
ページ(範囲)567-570
ページ数4
ジャーナルBrain and Development
32
7
DOI
出版ステータス出版済み - 08-2010
外部発表はい

All Science Journal Classification (ASJC) codes

  • 小児科学、周産期医学および子どもの健康
  • 発達神経科学
  • 臨床神経学

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