PT  - JOURNAL ARTICLE
AU  - J E Thompson
AU  - M Smith
AU  - M Castillo
AU  - M Barrow
AU  - S K Mukherji
TI  - MR in children with L-carnitine deficiency.
DP  - 1996 Sep 01
TA  - American Journal of Neuroradiology
PG  - 1585--1588
VI  - 17
IP  - 8
4099  - http://www.ajnr.org/content/17/8/1585.short
4100  - http://www.ajnr.org/content/17/8/1585.full
SO  - Am. J. Neuroradiol.1996 Sep 01; 17
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.