Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity
oleh: Boby Varkey Maramattom, Rajat Raja, Anuroop Balagopal
| Format: | Article |
|---|---|
| Diterbitkan: | Wolters Kluwer Medknow Publications 2016-01-01 |
Deskripsi
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.