Brain MR Imaging in Acute Hyperammonemic Encephalopathy Arising from Late-Onset Ornithine Transcarbamylase Deficiency

• Published in: American journal of neuroradiology : AJNR Vol. 24; no. 3; pp. 390 - 393
• Main Authors: Takanashi, Jun-ichi, Barkovich, A. James, Cheng, Sabrina F, Kostiner, Dana, Baker, John C, Packman, Seymour
• Format: Journal Article
• Language: English
• Published: Oak Brook, IL Am Soc Neuroradiology 01.03.2003; American Society of Neuroradiology
• Subjects: Aminoacid disorders; Biological and medical sciences; Brain - pathology; Brain Ischemia - diagnosis; Brain Ischemia - genetics; Cerebral Cortex - pathology; Child; Child, Preschool; Diagnosis, Differential; Errors of metabolism; Female; Gyrus Cinguli - pathology; Humans; Hyperammonemia - diagnosis; Hyperammonemia - genetics; Magnetic Resonance Imaging; Male; Medical sciences; Metabolic diseases; Middle Aged; Ornithine Carbamoyltransferase Deficiency Disease - diagnosis; Pediatrics; Enzymopathy; Age of onset; Encephalopathy; Adult; Complication; Diagnosis; Child; Aminoacid disorder; Human; Nervous system diseases; Enzyme; Transferases; Deficiency; Hyperammonemia; Metabolic diseases; Urea cycle; Nuclear magnetic resonance imaging; Cerebral disorder; Genetic disease; Ornithine carbamoyltransferase; Case study; Ammonia; Metabolic disorder; Central nervous system disease; Medical imagery
• ISSN: 0195-6108; 1936-959X

The brain MR imaging characteristics of three patients with acute hyperammonemic encephalopathy resulting from late-onset ornithine transcarbomylase deficiency are presented. MR images revealed injury to the cortex, especially the cingulate gyrus and insular cortex, with sparing of the perirolandic and occipital cortices. These findings presumably reflect the distribution of brain injury from hypoperfusion secondary to hyperammonemia. Knowledge of the MR findings may help expedite diagnosis and treatment and prevent chronic impairment.