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MR in children with L-carnitine deficiency
J E Thompson1, M Smith, M Castillo
1Department of Radiology, University of North Carolina School of Medicine, Chapel Hill, USA.
Insights
L-Carnitine deficiency can cause stroke in children, with MR imaging showing characteristic brain infarctions. Early diagnosis and treatment are crucial for managing this rare metabolic disorder.
Area of Science:
- Pediatric Neurology
- Metabolic Disorders
- Neuroradiology
Background:
- L-Carnitine deficiency is a rare metabolic disorder.
- Cerebral infarctions can be a presenting symptom in children.
- MR imaging is a key diagnostic tool for neurological abnormalities.
Purpose of the Study:
- To detail the Magnetic Resonance (MR) imaging findings.
- To investigate L-carnitine deficiency in pediatric stroke patients.
Main Methods:
- Retrospective review of MR imaging studies in five children.
- Confirmed L-carnitine deficiency via serum level testing.
- Clinical data including symptoms and outcomes were analyzed.
Main Results:
- MR imaging revealed cerebral infarctions in most patients, some hemorrhagic.
- One patient showed nonspecific white matter changes.
- Outcomes varied, including seizures, hemiparesis, normal recovery, and death, with serum L-carnitine normalization post-treatment.
Conclusions:
- L-Carnitine deficiency is a significant cause of stroke in children.
- MR imaging findings can suggest this metabolic disorder.
- Consider L-carnitine deficiency in pediatric stroke, especially with hypoglycemia and myopathy.
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.