MR in children with L-carnitine deficiency.
OBJECTIVE
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.


CONCLUSIONS
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.
Thompson
J E
JE
Department of Radiology, University of North Carolina School of Medicine, Chapel Hill, USA.
Smith
M
M
Castillo
M
M
Barrow
M
M
Mukherji
S K
SK
D000293:Adolescent; D002331:Carnitine / Q000097:blood / Q000172:deficiency*; D002423:Cause of Death; D002543:Cerebral Hemorrhage / Q000175:diagnosis; D002544:Cerebral Infarction / Q000175:diagnosis*; D002552:Cerebral Ventricles / Q000473:pathology; D003287:Contrast Media; D003937:Diagnosis, Differential; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D006429:Hemiplegia / Q000209:etiology; D006801:Humans; D007089:Image Enhancement; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D010296:Parietal Lobe / Q000473:pathology; D012640:Seizures / Q000209:etiology
D003287:Contrast Media; D002331:Carnitine