Literature DB >> 22532545

Reversible diffusion weighted imaging changes in propionic acidemia.

Amit Kandel1, Sirisa Kandel Amatya, E Ann Yeh.   

Abstract

Propionic acidemia is an inborn error of metabolism with neurologic manifestations. We describe a 3-year-old boy with propionic acidemia presenting with a metabolic crisis including headache, vomiting, and altered mental status with metabolic acidosis. Electroencephalography showed focal slowing in right temporal region. Magnetic resonance imaging (MRI) of the brain showed restricted diffusion with apparent diffusion coefficient correlate in the right parietooccipital region. Correction of metabolic acidosis led to clinical improvement and normalization of MRI diffusion weighted imaging/apparent diffusion coefficient changes. This article suggests that restricted diffusion resulting from metabolic crises in propionic acidemia may be reversible in some cases.

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Year:  2012        PMID: 22532545     DOI: 10.1177/0883073812441057

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  4 in total

Review 1.  Methylmalonic and propionic acidemias: clinical management update.

Authors:  Jamie L Fraser; Charles P Venditti
Journal:  Curr Opin Pediatr       Date:  2016-12       Impact factor: 2.856

2.  Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.

Authors:  Patrick Forny; Friederike Hörster; Diana Ballhausen; Anupam Chakrapani; Kimberly A Chapman; Carlo Dionisi-Vici; Marjorie Dixon; Sarah C Grünert; Stephanie Grunewald; Goknur Haliloglu; Michel Hochuli; Tomas Honzik; Daniela Karall; Diego Martinelli; Femke Molema; Jörn Oliver Sass; Sabine Scholl-Bürgi; Galit Tal; Monique Williams; Martina Huemer; Matthias R Baumgartner
Journal:  J Inherit Metab Dis       Date:  2021-03-09       Impact factor: 4.750

3.  Unique neuroradiological findings in propionic acidemia.

Authors:  Cory M Pfeifer; Dane C Van Tassel; Jeffrey H Miller
Journal:  Radiol Case Rep       Date:  2018-09-14

Review 4.  Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Authors:  Matthias R Baumgartner; Friederike Hörster; Carlo Dionisi-Vici; Goknur Haliloglu; Daniela Karall; Kimberly A Chapman; Martina Huemer; Michel Hochuli; Murielle Assoun; Diana Ballhausen; Alberto Burlina; Brian Fowler; Sarah C Grünert; Stephanie Grünewald; Tomas Honzik; Begoña Merinero; Celia Pérez-Cerdá; Sabine Scholl-Bürgi; Flemming Skovby; Frits Wijburg; Anita MacDonald; Diego Martinelli; Jörn Oliver Sass; Vassili Valayannopoulos; Anupam Chakrapani
Journal:  Orphanet J Rare Dis       Date:  2014-09-02       Impact factor: 4.123

  4 in total

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