American Journal of Neuroradiology, Vol 17, Issue 8 1585-1588, Copyright © 1996 by American Society of Neuroradiology
ARTICLES |
MR in children with L-carnitine deficiency
JE Thompson, M Smith, M Castillo, M Barrow and SK Mukherji
Department of Radiology, University of North Carolina School of Medicine, Chapel Hill, USA.
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.
This article has been cited by other articles:
 |
|
 |
|
  S. G. Pavlakis, P. B. Kingsley, and M. G. Bialer Stroke in Children: Genetic and Metabolic Issues J Child Neurol, May 1, 2000; 15(5): 308 - 315. [Abstract] [PDF]
|
|