MR IN CHILDREN WITH L-CARNITINE DEFICIENCY

PURPOSE: To describe the MR imaging findings in five children with pro ved L-carnitine deficiency. METHODS: MR imaging studies (five without contrast, two with contrast) were obtained in five children (mean age, 9 years) who presented with stroke symptoms and who proved to have L- carnitine deficiency as established by serum levels. RESULTS: In three of five patients, infarctions were confined to arterial distributions ; one patient had a hemorrhagic infarction in one frontoparietal regio n; and one patient had only nonspecific periventricular white matter T 2 hyperintensities. Serum L-carnitine levels normalized after correcti on; sequelae included seizures in two patients, hemiparesis in one pat ient, normal outcome in one patient, and death in one patient. CONCLUS ION: L-Carnitine deficiency is a rare metabolic disorder leading to ce rebral infarctions, as seen in our five patients, and should be consid ered in the differential diagnosis of children who have had a stroke, particularly when associated with hypoglycemia and myopathy.