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Updated: Mar 22, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Congenital amegakaryocytic thrombocytopenia with severe neurological findings

Özcan Bör1, Ayse B Turhan, Coskun Yarar

  • 1aDivision of Pediatric Hematology and Oncology bDivision of Pediatric Neurology, Department of Pediatrics, University of Eskişehir Osmangazi, School of Medicine, Eskisehir, Turkey.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis
|April 22, 2016
PubMed

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive disorder characterized by thrombocytopenia from failure of megakaryopoiesis. The genetic background of CAMT is mutations in the myeloproliferative ligand gene encoding the thrombopoietin receptor. In our patient with CAMT, we identified homozygous missense mutations [c.407C>T (p.P136L)]. The association of CAMT and central nervous system (CNS) abnormalities is uncommon. Here we present a case in which CAMT appears linked to CNS abnormalities (encephalomalacia, global atrophy) and developmental delay related with intrauterine intracranial hemorrhage.

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