Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies

Ellis Eshuis-Peters, Anne Brigitta Versluys, Marijn Fijke Stokman, Saskia Nanette van der Crabben, Sebastiaan W A Nij Bijvank, Gerda van Wezel-Meijler

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure, caused by MPL gene mutations. The combination of CAMT and central nervous system abnormalities is uncommon. We describe a case with a homozygous missense MPL gene mutation and polymicrogyria, underdevelopment of the cerebellum, and multiple intracranial hemorrhages.

Original languageEnglish
Pages (from-to)128-131
Number of pages4
JournalNeuropediatrics
Volume47
Issue number2
DOIs
Publication statusPublished - Apr 2016

Keywords

  • Central Nervous System
  • Cerebellum
  • Gestational Age
  • Humans
  • Infant
  • Intracranial Hemorrhages
  • Male
  • Mutation, Missense
  • Polymicrogyria
  • Receptors, Thrombopoietin
  • Thrombocytopenia
  • congenital
  • amegakaryocytic
  • thrombocytopenia
  • CAMT
  • MPL
  • CNS

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