Late- onset ornithine transcarbamylase deficiency mimicking a focal opercular syndrome.

Autor:	Donlon, Eoghan, McGettigan, Jamie, Gaffney, Christine, Ahmad, Marzuki Wan, Boers, Peter, Treacy, Eileen, Chaila, Elijah
Předmět:	COGNITION disorders X-linked genetic disorders BRAIN diseases STATUS epilepticus GENETIC mutation EPILEPSY AMMONIA DELAYED onset of disease AMINO acid metabolism disorders GENETIC testing AGITATION (Psychology) MAGNETIC resonance imaging METABOLIC disorders TRANSFERASES CEREBRAL edema
Zdroj:	Practical Neurology; Jun2022, Vol. 22 Issue 3, p224-227, 4p
Abstrakt:	A previously healthy 27-year-old man was brought to hospital after been found late at night confused, agitated and talking incoherently. He represented 12 days later with focal seizures, progressing to anarthria and encephalopathy. MR scan of brain showed diffuse cerebral oedema and his plasma ammonia was >2000 µmol/L (12-55 µmol/L). He developed refractory status epilepticus and subsequently died. Genetic analysis identified an ornithine transcarbamylase (OTC) gene mutation on the X chromosome. We discuss this atypical presentation of OTC deficiency as a rare but treatable cause of hyperammonaemic encephalopathy. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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