May 7, 2015: Childhood stroke: think metabolic

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May 7, 2015

Childhood stroke: think metabolic

Childhood stroke is rare and occurs in approximately two to thirteen out of one hundred thousand children per year. Several known conditions place children at a higher risk for stroke, both ischemic and hemorrhagic. More common conditions include vascular malformations, coagulopathic diseases, hemophilias, amongst others. Metabolic disease should also be included in the differential when evaluating a child with stroke. Children with mitochondrial diseases are predisposed to stroke during periods of stress and have even been associated with Moyamoya disease. A classic example is MELAS, mitochondrial encephalopathy with lactic acidosis and stroke-like symptoms. In homocystinuria, children develop elevated levels of homocysteine, leading to vascular endothelial damage and promotion of thrombosis. Glycolipids accumulate in the endothelial wall in Fabry’s disease, a deficiency in alpha-galactodsidase. In addition, a condition such as alpha-1 antitrypsin syndrome can also predispose a child to stroke due to an imbalance of proteases and formation of aneurysms. As childhood stroke is quite rare, a broad differential is crucial and metabolic disease should be considered.


  1. Giroud M, Lemesle M, Gouyon JB, Nivelon JL, Milan C, Dumas R. Cerebrovascular disease in children under 16 years of age in the city of Dijon, France: a study of incidence and clinical features from 1985 to 1993. Journal of Clinical Epidemiology 1995; 48: 1343-1348.
  2. Longo N, Schrijver I, Vogel H, et al. Progressive cerebral vascular degeneration with mitochondrial encephalopathy. American Journal of Medical Genetics Part A 2008; 146: 361-367.

Submitted by James Addington, M.D. Resident Physician, Department of Neurology, University of Virginia

Disclosures: Dr. Addington is a member of the Residents & Fellows Section of Neurology.

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