MRI in medium-chain acyl-coenzyme a dehydrogenase deficiency: neuroimaging during the first month
-
Lorenzo Figà Talamanca
,
Luca Pasquini
,
Antonio Napolitano
Abstract
Background:
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.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
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- Parent reported nutritional risk and laboratory indices of cardiometabolic risk and in preschool-aged children
- Multinodular goiter in children: treatment controversies
- Atopy as a risk factor for subclinical hypothyroidism development in children
- Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism
- Health-related quality of life among children with Turner syndrome: controlled cross-sectional study
- Growth and pubertal patterns in young survivors of childhood acute lymphoblastic leukemia
- Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening
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- Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation
- Severe hypertriglyceridemia at new onset type 1 diabetes mellitus
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- MRI in medium-chain acyl-coenzyme a dehydrogenase deficiency: neuroimaging during the first month
