In:
Journal of Pediatric Endocrinology and Metabolism, Walter de Gruyter GmbH, Vol. 30, No. 8 ( 2017-01-1)
Kurzfassung:
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. Case presentation: 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. Conclusions: 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.
Materialart:
Online-Ressource
ISSN:
2191-0251
,
0334-018X
DOI:
10.1515/jpem-2017-0045
Sprache:
Unbekannt
Verlag:
Walter de Gruyter GmbH
Publikationsdatum:
2017
ZDB Id:
2583847-7
