Ornithine transcarbamylase deficiency
Ornithine transcarbamylase deficiency (OTCD) is the most common inherited urea cycle disorder and the only one to be transmitted as an X-linked trait.
Aug. 04, 2019
A 65-year-old woman presented with acute onset ataxia, headaches, bilateral arm numbness, and binocular diplopia. Examination was remarkable for decreased alertness, bilateral sixth nerve palsies, and bilateral upper limb dysmetria. Further deterioration in her level of consciousness prompted an acute CT without contrast, which was normal. MRI showed restricted diffusion in bilateral thalamic, bilateral cerebellar, and right midbrain regions. (Contributed by Dr. Tim Malisch and Dr. José Biller.)