Large Cystic Cavernous Malformation in Infant with Novel KRIT1 Gene Abnormality

Victor M. Lu; David J. Daniels

doi:10.1016/j.wneu.2019.07.103

Large Cystic Cavernous Malformation in Infant with Novel KRIT1 Gene Abnormality

Victor M. Lu, David J. Daniels

Neurosurgery

Research output: Contribution to journal › Article › peer-review

Abstract

Intracranial cavernous malformation are vascular lesions that can present for urgent surgical intervention. Occurrence in the infant demographic is extremely rare, and presentation can vary greatly. We present a striking clinical image of a large cavernous malformation with a larger cystic component in an infant that was successfully treated with surgical intervention and found to harbor a de novo novel KRIT1 gene abnormality, which affected the nature of surveillance.

Original language	English (US)
Pages (from-to)	304-305
Number of pages	2
Journal	World neurosurgery
Volume	130
DOIs	https://doi.org/10.1016/j.wneu.2019.07.103
State	Published - Oct 2019

Keywords

Cavernous malformation
Infantile
KRIT1
Mutation
Pediatric
Surgery

ASJC Scopus subject areas

Surgery
Clinical Neurology

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10.1016/j.wneu.2019.07.103

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title = "Large Cystic Cavernous Malformation in Infant with Novel KRIT1 Gene Abnormality",

abstract = "Intracranial cavernous malformation are vascular lesions that can present for urgent surgical intervention. Occurrence in the infant demographic is extremely rare, and presentation can vary greatly. We present a striking clinical image of a large cavernous malformation with a larger cystic component in an infant that was successfully treated with surgical intervention and found to harbor a de novo novel KRIT1 gene abnormality, which affected the nature of surveillance.",

keywords = "Cavernous malformation, Infantile, KRIT1, Mutation, Pediatric, Surgery",

author = "Lu, {Victor M.} and Daniels, {David J.}",

year = "2019",

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AU - Lu, Victor M.

AU - Daniels, David J.

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N2 - Intracranial cavernous malformation are vascular lesions that can present for urgent surgical intervention. Occurrence in the infant demographic is extremely rare, and presentation can vary greatly. We present a striking clinical image of a large cavernous malformation with a larger cystic component in an infant that was successfully treated with surgical intervention and found to harbor a de novo novel KRIT1 gene abnormality, which affected the nature of surveillance.

AB - Intracranial cavernous malformation are vascular lesions that can present for urgent surgical intervention. Occurrence in the infant demographic is extremely rare, and presentation can vary greatly. We present a striking clinical image of a large cavernous malformation with a larger cystic component in an infant that was successfully treated with surgical intervention and found to harbor a de novo novel KRIT1 gene abnormality, which affected the nature of surveillance.

KW - Cavernous malformation

KW - Infantile

KW - KRIT1

KW - Mutation

KW - Pediatric

KW - Surgery

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JO - World neurosurgery

JF - World neurosurgery

ER -

Large Cystic Cavernous Malformation in Infant with Novel KRIT1 Gene Abnormality

Abstract

Keywords

ASJC Scopus subject areas

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