1/1. A child with diamond-Blackfan anemia, methylenetetrahydrofolate reductase mutation, and perinatal stroke.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/microL. 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.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |