title: Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity.
abstract: 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.
authors: Department of Neurology, Aster Medcity, Cheranelloor, Kochi, Kerala, India.
authors: Boby Varkey
authors: BV
authors: Maramattom
authors: Department of Critical Care, Aster Medcity, Cheranelloor, Kochi, Kerala, India.
authors: Rajat
authors: R
authors: Raja
authors: Department of Critical Care, Aster Medcity, Cheranelloor, Kochi, Kerala, India.
authors: Anuroop
authors: A
authors: Balagopal
keywords: Arginase deficiency; midbrain hyperintensity; moustache sign; urea cycle disorder