Ornithine Transcarbamylase Deficiency Presenting With Acute Reversible Cortical Blindness. (May 2015)

• Record Type: Journal Article
• Authors: Prasun, Pankaj; Altinok, Deniz; Misra, Vinod K.
• Is Part Of: Journal of child neurology. Volume 30:Number 6(2015:Jul.)
• Page Start: 782
• Page End: 785
• Publication Date: 2015-05
• Subjects: metabolic stroke -- urea cycle defect -- magnetic resonance imaging (MRI) -- occipital lobe -- transient blindness -- subcortical hypointensity; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073814535490
• Languages: English
• ISSNs: 0883-0738

Abstract

Acute focal neurologic deficits are a rare but known presentation of ornithine transcarbamylase deficiency, particularly in females. We describe here a 6-year-old girl with newly diagnosed ornithine transcarbamylase deficiency who presents with an episode of acute cortical blindness lasting for 72 hours in the absence of hyperammonemia. Her symptoms were associated with a subcortical low-intensity lesion with overlying cortical hyperintensity on fluid-attenuated inversion recovery magnetic resonance imaging (MRI) of the occipital lobes. Acute reversible vision loss with these MRI findings is an unusual finding in patients with ornithine transcarbamylase deficiency. Our findings suggest a role for oxidative stress and aberrant glutamine metabolism in the acute clinical features of ornithine transcarbamylase deficiency even in the absence of hyperammonemia.