| CASE REPORT |
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| Year : 2016 | Volume
: 19
| Issue : 3 | Page : 392-394 |
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Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity
Boby Varkey Maramattom1, Rajat Raja2, Anuroop Balagopal2
1 Department of Neurology, Aster Medcity, Cheranelloor, Kochi, Kerala, India
2 Department of Critical Care, Aster Medcity, Cheranelloor, Kochi, Kerala, India
Correspondence Address:
Boby Varkey Maramattom
Department of Neurology, Aster Medcity, Cheranelloor, Kochi - 682 027, Kerala
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0972-2327.167701
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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. |
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