title: A child with Diamond-Blackfan anemia, methylenetetrahydrofolate reductase mutation, and perinatal stroke.
abstract: 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.
authors.affiliation: Riley Hospital for Children, Indianapolis, IN, USA.
authors.forename: Matthew W
authors.initials: MW
authors.lastname: Butrum
authors.forename: Linda S
authors.initials: LS
authors.lastname: Williams
authors.forename: Meredith R
authors.initials: MR
authors.lastname: Golomb
mesh_terms: D029503:Anemia, Diamond-Blackfan / Q000150:complications*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D020521:Stroke / Q000209:etiology*
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)