%0 Journal Article
%T Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity
%A Anuroop Balagopal
%A Boby Varkey Maramattom
%A Rajat Raja
%J Archive of "Annals of Indian Academy of Neurology".
%D 2016
%R 10.4103/0972-2327.167701
%X Urea cycle disorders (UCD) are very rare metabolic disorders that present with encephalopathy and hyperammonemia. Of the UCDs, Arginase deficiency (ARD) is the rarest and presents in childhood with a progressive spastic diplegia or seizures. Acute presentation in adulthood is extremely unusual.[1] We present the first case of adult onset ARD presenting with encephalopathy and diffusion weighted MRI findings that resembled a moustache in the midbrain
%K Arginase deficiency
%K midbrain hyperintensity
%K moustache sign
%K urea cycle disorder
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4980967/