'Hair-on-end' skull changes resembling thalassemia caused by marrow expansion in uncorrected complex cyanotic heart

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07:23

Culture of Murine Embryonic Metatarsals: A Physiological Model of Endochondral Ossification

Published on: December 3, 2016

David M Walor1, Walter E Berdon, Sjirk J Westra

  • 1Department of Radiology Children's Hospital of New York, Columbia University Medical Center, 3959 Broadway, New York, NY 10032, USA. Web2@columbia.edu

Pediatric Radiology
|March 19, 2005
PubMed

Insights

Rare skull changes, previously seen in children with cyanotic heart disease, are now observed in complex uncorrectable cases. These findings highlight a link between chronic hypoxia and specific bone abnormalities.

Area of Science:

  • Pediatric Cardiology
  • Radiology
  • Hematology

Background:

  • The "hair-on-end" skull finding, historically associated with thalassemia, was infrequently reported in children with cyanotic congenital heart disease (CCHD) in the mid-20th century.
  • These changes were predominantly noted in patients with tetralogy of Fallot and D-transposition of the great arteries.

Observation:

  • With advancements in surgical correction, these osseous changes have become exceedingly rare.
  • They are now primarily observed in a limited cohort of pediatric patients with uncorrectable complex CCHD experiencing chronic hypoxia.

Findings:

  • This report details two cases: a 5-year-old boy with uncorrectable CCHD exhibiting significant skull marrow expansion (evaluated by CT) and an 8-year-old with tetralogy of Fallot and pulmonary atresia (evaluated by plain skull radiographs).
  • The precise incidence of these "hair-on-end" skull changes in contemporary pediatric CCHD populations remains undetermined.

Implications:

  • The findings suggest a correlation between chronic hypoxemia in complex congenital heart disease and specific radiographic bone abnormalities.
  • Further research is needed to ascertain the true prevalence of these changes and their clinical significance in surviving pediatric patients with complex CCHD.

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