Annals of Indian Academy of Neurology
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CASE REPORT
Year : 2016  |  Volume : 19  |  Issue : 3  |  Page : 392-394

Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity


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
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Source of Support: None, Conflict of Interest: None


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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