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Journal of Child Neurology
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A Child With Diamond-Blackfan Anemia, Methylenetetrahydrofolate Reductase Mutation, and Perinatal Stroke

Matthew W. Butrum, MD

St. Vincent's Hospital Indianapolis, IN

Linda S. Williams, MD

Richard L. Roudebush VA Medical Center Health Services Research and Development Department of Neurology Indiana University School of Medicine Regenstrief Institute Indianapolis, IN

Meredith R. Golomb, MD, MSc

Department of Neurology Division of Pediatric Neurology Indiana University School of Medicine Indianapolis, IN, mgolomb{at}iupui.edu.

Diamond-Blackfan anemia is a congenital hypoproliferative anemia known to be associated with diverse physical anomalies affecting the thumb, craniofacial bones, urogenital system, and heart; prematurity; and fetal demise. We report the case of a 16-month-old boy with Diamond-Blackfan anemia noted to have decreased use of his right side since birth. Magnetic resonance imaging demonstrated a large area of encephalomalacia in the left middle cerebral artery territory. Magnetic resonance angiography showed marked attenuation of the left middle cerebral artery, suggesting a remote thromboembolic event. The laboratory results were remarkable for a decreased hemogolobin of 9.5 g/dL and increased platelets of 591,000/µL. He was heterozygous for the methylenetetrahydrofolate reductase gene C677T mutation. An echocardiogram demonstrated a patent foramen ovale versus an atrial septal defect with left to right shunting. Perinatal stroke may be a rare complication of Diamond-Blackfan anemia in the setting of other risk factors. (J Child Neurol 2003;18:800—802).

Journal of Child Neurology, Vol. 18, No. 11, 800-802 (2003)
DOI: 10.1177/08830738030180111301
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