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

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Ornithine Carbamoyltransferase Deficiency Disease
Encephalomalacia
Hyperammonemia
Hypoglycemia
Inborn Urea Cycle Disorder
Corpus Striatum
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Gyrus Cinguli
Brain Edema
Neuroimaging
Brain Injuries
Magnetic Resonance Imaging

All Science Journal Classification (ASJC) codes

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

Cite this

Okanishi, Tohru ; Ito, Tetsuya ; Nakajima, Yoko ; Ito, Koichi ; Kakita, Hiroki ; Yamada, Yasumasa ; Kobayashi, Satoru ; Ando, Naoki ; Togari, Hajime. / Parieto-occipital encephalomalacia in neonatal hyperammonemia with ornithine transcarbamylase deficiency : A case report. In: Brain and Development. 2010 ; Vol. 32, No. 7. pp. 567-570.
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Okanishi, T, Ito, T, Nakajima, Y, Ito, K, Kakita, H, Yamada, Y, Kobayashi, S, Ando, N & Togari, H 2010, 'Parieto-occipital encephalomalacia in neonatal hyperammonemia with ornithine transcarbamylase deficiency: A case report', Brain and Development, vol. 32, no. 7, pp. 567-570. https://doi.org/10.1016/j.braindev.2009.07.001

Parieto-occipital encephalomalacia in neonatal hyperammonemia with ornithine transcarbamylase deficiency : A case report. / Okanishi, Tohru; Ito, Tetsuya; Nakajima, Yoko; Ito, Koichi; Kakita, Hiroki; Yamada, Yasumasa; Kobayashi, Satoru; Ando, Naoki; Togari, Hajime.

In: Brain and Development, Vol. 32, No. 7, 01.08.2010, p. 567-570.

Research output: Contribution to journalArticle

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AU - Okanishi, Tohru

AU - Ito, Tetsuya

AU - Nakajima, Yoko

AU - Ito, Koichi

AU - Kakita, Hiroki

AU - Yamada, Yasumasa

AU - Kobayashi, Satoru

AU - Ando, Naoki

AU - Togari, Hajime

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