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Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity
| Content Provider | Scilit |
|---|---|
| Author | Raja, Rajat Balagopal, Anuroop Maramattom, Boby Varkey |
| Copyright Year | 2016 |
| 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. |
| Related Links | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4980967/pdf |
| File Format | XHTML |
| ISSN | 09722327 |
| e-ISSN | 19983549 |
| DOI | 10.4103/0972-2327.167701 |
| Journal | Annals of Indian Academy of Neurology |
| Issue Number | 3 |
| Volume Number | 19 |
| Language | English |
| Publisher | Medknow |
| Access Restriction | Open |
| Subject Keyword | Neuroimaging Arginase Deficiency Midbrain Hyperintensity Moustache Sign Urea Cycle Disorder Annals of Indian Academy of Neurology, Volume 19, Issue 3 |
| Content Type | Text |
| Resource Type | Article |
| Subject | Neurology (clinical) |
