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:https://doi.org/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

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)	128-31
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/abnormalities
Cerebellum/abnormalities
Congenital Bone Marrow Failure Syndromes
Gestational Age
Humans
Infant
Intracranial Hemorrhages/complications
Male
Mutation, Missense
Polymicrogyria/complications
Receptors, Thrombopoietin/genetics
Thrombocytopenia/complications

Access to Document

https://doi.org/10.1055/s-0036-1571800

Cite this

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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.",

keywords = "Central Nervous System/abnormalities, Cerebellum/abnormalities, Congenital Bone Marrow Failure Syndromes, Gestational Age, Humans, Infant, Intracranial Hemorrhages/complications, Male, Mutation, Missense, Polymicrogyria/complications, Receptors, Thrombopoietin/genetics, Thrombocytopenia/complications",

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.",

year = "2016",

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language = "English",

volume = "47",

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journal = "Neuropediatrics",

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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

Y1 - 2016/4

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/abnormalities

KW - Cerebellum/abnormalities

KW - Congenital Bone Marrow Failure Syndromes

KW - Gestational Age

KW - Humans

KW - Infant

KW - Intracranial Hemorrhages/complications

KW - Male

KW - Mutation, Missense

KW - Polymicrogyria/complications

KW - Receptors, Thrombopoietin/genetics

KW - Thrombocytopenia/complications

U2 - https://doi.org/10.1055/s-0036-1571800

DO - https://doi.org/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 -