MRI in medium-chain acyl-coenzyme a dehydrogenase deficiency: Neuroimaging during the first month

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Abstract

Medium-chain acyl-coenzyme A dehydrogenase (MCAD) is the most common genetic disorder of fatty acid oxidation, which presents before the age of 2 with the onset of acute hypoketotic hypoglycemia, and is typically precipitated by stress. We report serial brain magnetic resonance imaging (MRI) changes, including MR spectroscopy (MRS) and diffusion weighted imaging (DWI), in a patient with a classical MCAD presentation, compared with five healthy controls. Through this unique case we analyze the evolution of radiological findings during the first month of illness and we highlight the pivotal role of MRI, especially DWI, in the early diagnosis of the decompensated state of the disease.

Original languageEnglish
Pages (from-to)905-908
Number of pages4
JournalJournal of Pediatric Endocrinology and Metabolism
Volume30
Issue number8
DOIs
Publication statusPublished - Aug 28 2017

Keywords

  • DWI
  • MCAD
  • metabolic diseases
  • MRI
  • MRS
  • neuroradiology

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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