CT and MRI findings in infantile vanishing white matter

Kyle Robbins; Patrick Arraj; Lauren Dengle Sanchez; Nikhil Godiyal; Daniel L. Veltkamp; Cory M. Pfeifer

doi:10.1016/j.radcr.2020.10.035

CT and MRI findings in infantile vanishing white matter

Kyle Robbins, Patrick Arraj, Lauren Dengle Sanchez, Nikhil Godiyal, Daniel L. Veltkamp, Cory M. Pfeifer

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

Abstract

Infantile vanishing white matter disease is an uncommon cause of developmental delay and seizures in children. Presented here is a case of vanishing white matter disease diagnosed at 6 months of age. Imaging findings demonstrated widespread white matter abnormalities throughout the supratentorial and infratentorial brain. The diagnosis of infantile vanishing white matter disease was confirmed via molecular analysis which revealed a rare mutation in the gene responsible for this disorder.

Original language	English (US)
Pages (from-to)	116-118
Number of pages	3
Journal	Radiology Case Reports
Volume	16
Issue number	1
DOIs	https://doi.org/10.1016/j.radcr.2020.10.035
State	Published - Jan 2021

Keywords

Cree leukodystrophy
Infantile vanishing white matter

ASJC Scopus subject areas

Radiology Nuclear Medicine and imaging

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10.1016/j.radcr.2020.10.035

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title = "CT and MRI findings in infantile vanishing white matter",

abstract = "Infantile vanishing white matter disease is an uncommon cause of developmental delay and seizures in children. Presented here is a case of vanishing white matter disease diagnosed at 6 months of age. Imaging findings demonstrated widespread white matter abnormalities throughout the supratentorial and infratentorial brain. The diagnosis of infantile vanishing white matter disease was confirmed via molecular analysis which revealed a rare mutation in the gene responsible for this disorder.",

keywords = "Cree leukodystrophy, Infantile vanishing white matter",

author = "Kyle Robbins and Patrick Arraj and {Dengle Sanchez}, Lauren and Nikhil Godiyal and Veltkamp, {Daniel L.} and Pfeifer, {Cory M.}",

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year = "2021",

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doi = "10.1016/j.radcr.2020.10.035",

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AU - Robbins, Kyle

AU - Arraj, Patrick

AU - Dengle Sanchez, Lauren

AU - Godiyal, Nikhil

AU - Veltkamp, Daniel L.

AU - Pfeifer, Cory M.

PY - 2021/1

Y1 - 2021/1

N2 - Infantile vanishing white matter disease is an uncommon cause of developmental delay and seizures in children. Presented here is a case of vanishing white matter disease diagnosed at 6 months of age. Imaging findings demonstrated widespread white matter abnormalities throughout the supratentorial and infratentorial brain. The diagnosis of infantile vanishing white matter disease was confirmed via molecular analysis which revealed a rare mutation in the gene responsible for this disorder.

AB - Infantile vanishing white matter disease is an uncommon cause of developmental delay and seizures in children. Presented here is a case of vanishing white matter disease diagnosed at 6 months of age. Imaging findings demonstrated widespread white matter abnormalities throughout the supratentorial and infratentorial brain. The diagnosis of infantile vanishing white matter disease was confirmed via molecular analysis which revealed a rare mutation in the gene responsible for this disorder.

KW - Cree leukodystrophy

KW - Infantile vanishing white matter

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VL - 16

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EP - 118

JO - Radiology Case Reports

JF - Radiology Case Reports

IS - 1

ER -

CT and MRI findings in infantile vanishing white matter

Abstract

Keywords

ASJC Scopus subject areas

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