Ornithine transcarbamylase deficiency presenting with strokelike episodes.
A girl with ornithine transcarbamylase deficiency had a history of recurrent strokelike episodes. The differential diagnosis of unexplained stroke should include primary urea cycle defects.
Christodoulou
J
J
Division of Clinical Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
Qureshi
I A
IA
McInnes
R R
RR
Clarke
J T
JT
D002561:Cerebrovascular Disorders / Q000175:diagnosis / Q000209:etiology*; D003937:Diagnosis, Differential; D005260:Female; D006429:Hemiplegia / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D012008:Recurrence