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.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Prasun P,Altinok D,Misra VKdoi
10.1177/0883073814535490subject
Has Abstractpub_date
2015-05-01 00:00:00pages
782-5issue
6eissn
0883-0738issn
1708-8283pii
0883073814535490journal_volume
30pub_type
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