Ornithine transcarbamylase deficiency presenting with acute reversible cortical blindness.
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.
Division of Genetics & Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI, USA.
Pankaj
P
Prasun
Pediatric Imaging, Children's Hospital of Michigan, Detroit, MI, USA.
Deniz
D
Altinok
Division of Genetics & Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI, USA vmisra@med.wayne.edu.
Vinod K
VK
Misra
D019575:Blindness, Cortical / Q000175:diagnosis / Q000209:etiology*; D002648:Child; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009778:Occipital Lobe / Q000473:pathology*; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology
magnetic resonance imaging (MRI); metabolic stroke; occipital lobe; subcortical hypointensity; transient blindness; urea cycle defect