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

Matthew W Butrum1, Linda S Williams, Meredith R Golomb

  • 1Riley Hospital for Children, Indianapolis, IN, USA.

Journal of Child Neurology
|December 31, 2003
PubMed

Insights

Diamond-Blackfan anemia, a rare genetic disorder, can lead to serious complications like perinatal stroke. This case highlights a young boy with Diamond-Blackfan anemia who experienced a stroke, emphasizing the need for vigilance.

Area of Science:

  • Hematology
  • Pediatric Neurology
  • Genetics

Background:

  • Diamond-Blackfan anemia is a congenital hypoproliferative anemia.
  • It is associated with physical anomalies, prematurity, and fetal demise.

Observation:

  • A 16-month-old boy with Diamond-Blackfan anemia presented with decreased right-sided use since birth.
  • MRI revealed encephalomalacia in the left middle cerebral artery territory.
  • MRA showed left middle cerebral artery attenuation, suggesting a thromboembolic event.

Findings:

  • The patient had low hemoglobin (9.5 g/dL) and elevated platelets (591,000/microL).
  • He was heterozygous for the MTHFR C677T gene mutation.
  • Echocardiogram showed a patent foramen ovale or atrial septal defect with left-to-right shunting.

Implications:

  • Perinatal stroke is a rare but potential complication of Diamond-Blackfan anemia.
  • This case underscores the importance of considering cerebrovascular events in affected children.
  • Genetic factors and cardiac anomalies may contribute to stroke risk in Diamond-Blackfan anemia.

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