Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation

Eur J Pediatr. 2006 Mar;165(3):182-5. doi: 10.1007/s00431-005-0031-x. Epub 2005 Dec 21.

Abstract

We report a neonate with hypertrophic cardiomyopathy and lethal myeloproliferative disorder with excessively proliferating immature erythroid precursors infiltrating non-hematopoietic organs. Mutational analysis uncovered a germline mutation in the Noonan syndrome/LEOPARD syndrome (NS/LS) gene PTPN11. In conclusion, this case report suggests that congenital myeloproliferative disorders in association with germline PTPN11 mutations may affect the erythroid lineage.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Diagnosis, Differential
  • Fatal Outcome
  • Germ-Line Mutation
  • Humans
  • Infant, Newborn
  • Male
  • Noonan Syndrome / diagnosis*
  • Noonan Syndrome / genetics