Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity
| Autor: | Rajat Raja, Anuroop Balagopal, Boby Varkey Maramattom |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Pathology
medicine.medical_specialty Urea cycle disorder Encephalopathy Case Report Late onset lcsh:RC346-429 030218 nuclear medicine & medical imaging 03 medical and health sciences moustache sign 0302 clinical medicine Arginase deficiency Internal medicine Spastic diplegia Medicine lcsh:Neurology. Diseases of the nervous system urea cycle disorder midbrain hyperintensity business.industry Hyperammonemia medicine.disease Hyperintensity Arginase Endocrinology Urea cycle Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Annals of Indian Academy of Neurology, Vol 19, Iss 3, Pp 392-394 (2016) Annals of Indian Academy of Neurology |
| ISSN: | 0972-2327 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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