Open AccessLate onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity
Author(s) -
Boby Varkey Maramattom,
Rajat Raja,
Anuroop Balagopal
Publication year - 2016
Publication title -
annals of indian academy of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/0972-2327.167701
Subject(s) - arginase , medicine , spastic diplegia , urea cycle , encephalopathy , pediatrics , hyperammonemia , hyperintensity , pathology , endocrinology , magnetic resonance imaging , arginine , psychiatry , cerebral palsy , radiology , biology , biochemistry , amino acid
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.