A child with Diamond-Blackfan anemia, methylenetetrahydrofolate reductase mutation, and perinatal stroke

J Child Neurol. 2003 Nov;18(11):800-2. doi: 10.1177/08830738030180111301.

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.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Diamond-Blackfan / complications*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Mutation*
  • Stroke / etiology*

Substances

  • Methylenetetrahydrofolate Reductase (NADPH2)