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

doi:10.1055/s-0036-1571800

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 journal › Article › Academic › peer-review

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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.

Original language	English
Pages (from-to)	128-131
Number of pages	4
Journal	Neuropediatrics
Volume	47
Issue number	2
DOIs	https://doi.org/10.1055/s-0036-1571800
Publication status	Published - 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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title = "Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies",

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.",

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author = "Ellis Eshuis-Peters and Versluys, \{Anne Brigitta\} and Stokman, \{Marijn Fijke\} and \{van der Crabben\}, \{Saskia Nanette\} and \{Nij Bijvank\}, \{Sebastiaan W A\} and \{van Wezel-Meijler\}, Gerda",

note = "Georg Thieme Verlag KG Stuttgart · New York.",

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T1 - Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies

AU - Eshuis-Peters, Ellis

AU - Versluys, Anne Brigitta

AU - Stokman, Marijn Fijke

AU - van der Crabben, Saskia Nanette

AU - Nij Bijvank, Sebastiaan W A

AU - van Wezel-Meijler, Gerda

N1 - Georg Thieme Verlag KG Stuttgart · New York.

PY - 2016/4

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N2 - 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.

AB - 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.

KW - Central Nervous System

KW - Cerebellum

KW - Gestational Age

KW - Humans

KW - Infant

KW - Intracranial Hemorrhages

KW - Male

KW - Mutation, Missense

KW - Polymicrogyria

KW - Receptors, Thrombopoietin

KW - Thrombocytopenia

KW - congenital

KW - amegakaryocytic

KW - thrombocytopenia

KW - CAMT

KW - MPL

KW - CNS

U2 - 10.1055/s-0036-1571800

DO - 10.1055/s-0036-1571800

M3 - Article

C2 - 26854587

SN - 0174-304X

VL - 47

SP - 128

EP - 131

JO - Neuropediatrics

JF - Neuropediatrics

IS - 2

ER -

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

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Keywords

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