Purpose: To describe the MR imaging findings in five children with proved 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 region; and one patient had only nonspecific periventricular white matter T2 hyper-intensities. Serum L-carnitine levels normalized after correction; sequelae included seizures in two patients, hemiparesis in one patient, normal outcome in one patient, and death in one patient.
Conclusion: L-Carnitine deficiency is a rare metabolic disorder leading to cerebral infarctions, as seen in our five patients, and should be considered in the differential diagnosis of children who have had a stroke, particularly when associated with hypoglycemia and myopathy.