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

Neuropediatrics. 2016 Apr;47(2):128-31. doi: 10.1055/s-0036-1571800. Epub 2016 Feb 8.

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.

MeSH terms

  • Central Nervous System / abnormalities*
  • Cerebellum / abnormalities
  • Congenital Bone Marrow Failure Syndromes
  • Gestational Age
  • Humans
  • Infant
  • Intracranial Hemorrhages / complications
  • Intracranial Hemorrhages / congenital
  • Male
  • Mutation, Missense
  • Polymicrogyria / complications*
  • Receptors, Thrombopoietin / genetics*
  • Thrombocytopenia / complications*
  • Thrombocytopenia / diagnosis*
  • Thrombocytopenia / genetics*

Substances

  • Receptors, Thrombopoietin
  • MPL protein, human

Supplementary concepts

  • Congenital amegakaryocytic thrombocytopenia