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

Matthew W. Butrum, Linda Williams, Meredith Golomb

Research output: Contribution to journalArticle

6 Citations (Scopus)

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/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.

Original languageEnglish
Pages (from-to)800-802
Number of pages3
JournalJournal of Child Neurology
Volume18
Issue number11
StatePublished - Nov 2003

Fingerprint

Diamond-Blackfan Anemia
Methylenetetrahydrofolate Reductase (NADPH2)
Stroke
Middle Cerebral Artery
Mutation
Encephalomalacia
Urogenital System
Patent Foramen Ovale
Fetal Death
Atrial Heart Septal Defects
Magnetic Resonance Angiography
Thumb
Anemia
Blood Platelets
Magnetic Resonance Imaging
Parturition
Bone and Bones
Genes

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

A child with Diamond-Blackfan anemia, methylenetetrahydrofolate reductase mutation, and perinatal stroke. / Butrum, Matthew W.; Williams, Linda; Golomb, Meredith.

In: Journal of Child Neurology, Vol. 18, No. 11, 11.2003, p. 800-802.

Research output: Contribution to journalArticle

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