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

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• 作者：Tohru Okanishi ; Tetsuya Ito ; Yoko Nakajima ; Koichi Ito ; Hiroki Kakita ; Yasumasa Yamada ; Satoru Kobayashi ; Naoki Ando ; Hajime Togari
• 关键词：Neonate ; Hyperammonemia ; Urea cycle disorder ; Ornithine transcarbamylase deficiency ; Occipital lesion
• 刊名：Brain and Development
• 出版年：2010
• 出版时间：August 2010
• 年：2010
• 卷：32
• 期：7
• 页码：567-570
• 全文大小：273 K

文摘

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.