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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.
AJNR. American Journal of Neuroradiology
|September 1, 1996
Summary
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.