Unique neuroradiological findings in propionic acidemia

Cory M. Pfeifer; Dane C. Van Tassel; Jeffrey H. Miller

doi:10.1016/j.radcr.2018.08.011

Unique neuroradiological findings in propionic acidemia

Cory M. Pfeifer, Dane C. Van Tassel, Jeffrey H. Miller

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

6 Scopus citations

Abstract

Propionic acidemia is a rare metabolic disorder that affects the catabolism of branched-chain amino acids and oddchain fatty acids. Propionic acidemia is one of the least common organic acidemias. Presented here are manifestations not previously characterized. The first case is an infant with diffuse subcortical diffusion restriction and vermian atrophy. The second case is an adolescent with asymmetric cortical volume loss and contralateral cortical diffusion restriction. These unique brain MRI findings of propionic acidemia may aid the neuroradiologist in guiding genetic testing for occult metabolic disease.

Original language	English (US)
Pages (from-to)	1207-1211
Number of pages	5
Journal	Radiology Case Reports
Volume	13
Issue number	6
DOIs	https://doi.org/10.1016/j.radcr.2018.08.011
State	Published - Dec 2018

Keywords

Metabolic crisis
Organic aciduria
Propionic acidemia

ASJC Scopus subject areas

Radiology Nuclear Medicine and imaging

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10.1016/j.radcr.2018.08.011

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title = "Unique neuroradiological findings in propionic acidemia",

abstract = "Propionic acidemia is a rare metabolic disorder that affects the catabolism of branched-chain amino acids and oddchain fatty acids. Propionic acidemia is one of the least common organic acidemias. Presented here are manifestations not previously characterized. The first case is an infant with diffuse subcortical diffusion restriction and vermian atrophy. The second case is an adolescent with asymmetric cortical volume loss and contralateral cortical diffusion restriction. These unique brain MRI findings of propionic acidemia may aid the neuroradiologist in guiding genetic testing for occult metabolic disease.",

keywords = "Metabolic crisis, Organic aciduria, Propionic acidemia",

author = "Pfeifer, {Cory M.} and {Van Tassel}, {Dane C.} and Miller, {Jeffrey H.}",

note = "Publisher Copyright: {\textcopyright} 2018 The Authors",

year = "2018",

month = dec,

doi = "10.1016/j.radcr.2018.08.011",

language = "English (US)",

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AU - Pfeifer, Cory M.

AU - Van Tassel, Dane C.

AU - Miller, Jeffrey H.

PY - 2018/12

Y1 - 2018/12

N2 - Propionic acidemia is a rare metabolic disorder that affects the catabolism of branched-chain amino acids and oddchain fatty acids. Propionic acidemia is one of the least common organic acidemias. Presented here are manifestations not previously characterized. The first case is an infant with diffuse subcortical diffusion restriction and vermian atrophy. The second case is an adolescent with asymmetric cortical volume loss and contralateral cortical diffusion restriction. These unique brain MRI findings of propionic acidemia may aid the neuroradiologist in guiding genetic testing for occult metabolic disease.

AB - Propionic acidemia is a rare metabolic disorder that affects the catabolism of branched-chain amino acids and oddchain fatty acids. Propionic acidemia is one of the least common organic acidemias. Presented here are manifestations not previously characterized. The first case is an infant with diffuse subcortical diffusion restriction and vermian atrophy. The second case is an adolescent with asymmetric cortical volume loss and contralateral cortical diffusion restriction. These unique brain MRI findings of propionic acidemia may aid the neuroradiologist in guiding genetic testing for occult metabolic disease.

KW - Metabolic crisis

KW - Organic aciduria

KW - Propionic acidemia

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JF - Radiology Case Reports

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ER -

Unique neuroradiological findings in propionic acidemia

Abstract

Keywords

ASJC Scopus subject areas

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