RT Journal Article
SR Electronic
T1 MR in children with L-carnitine deficiency.
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1585
OP 1588
VO 17
IS 8
A1 Thompson, J E
A1 Smith, M
A1 Castillo, M
A1 Barrow, M
A1 Mukherji, S K
YR 1996
UL http://www.ajnr.org/content/17/8/1585.abstract
AB 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.