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Neuropediatrics 2016; 47(02): 128-131
DOI: 10.1055/s-0036-1571800
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

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

Ellis Eshuis-Peters
1   Department of Neonatology, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht, The Netherlands
,
Anne Brigitta Versluys
2   Department of Pediatric Hematology, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht, The Netherlands
,
Marijn Fijke Stokman
3   Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
,
Saskia Nanette van der Crabben
3   Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
,
Sebastiaan W. A. Nij Bijvank
4   Department of Obstetrics and Gynaecology, Isala, Zwolle, The Netherlands
,
Gerda van Wezel-Meijler
5   Department of Neonatology, Isala, Zwolle, The Netherlands
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Publikationsverlauf

21. September 2015

16. Dezember 2015

Publikationsdatum:
08. Februar 2016 (online)

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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.

Keywords

congenital - amegakaryocytic - thrombocytopenia - CAMT - MPL - CNS

Supplementary Material

 

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