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.
MRI in medium-chain acyl-coenzyme a dehydrogenase deficiency: Neuroimaging during the first month / Talamanca, L. F.; Pasquini, L.; Napolitano, A.; Longo, D.. - In: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. - ISSN 0334-018X. - 30:8(2017), pp. 905-908. [10.1515/jpem-2017-0045]
MRI in medium-chain acyl-coenzyme a dehydrogenase deficiency: Neuroimaging during the first month
Pasquini L.
Secondo
;
2017
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
