Broadening the Picture of Short-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report with Microcephaly, Leukoencephalopathy, and Characteristic Magnetic Resonance Spectroscopic Findings

Maria Papadopoulou; Kyriaki Papadopoulou-Legbelou; Iokasti Koutsampasopoulou; Despoina Tramma; Athanassios Evangeliou

doi:10.1055/s-0037-1607997

Journal of Pediatric Neurology, Inhaltsverzeichnis

Journal of Pediatric Neurology 2018; 16(04): 243-247
DOI: 10.1055/s-0037-1607997

Case Report

Georg Thieme Verlag KG Stuttgart · New York

Broadening the Picture of Short-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report with Microcephaly, Leukoencephalopathy, and Characteristic Magnetic Resonance Spectroscopic Findings

Maria Papadopoulou

¹4th Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, “Papageorgiou” General Hospital, Thessaloniki, Greece

,

Kyriaki Papadopoulou-Legbelou

¹4th Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, “Papageorgiou” General Hospital, Thessaloniki, Greece

,

Iokasti Koutsampasopoulou

²Department of Radiology, “Papageorgiou” General Hospital, Thessaloniki, Greece

,

Despoina Tramma

¹4th Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, “Papageorgiou” General Hospital, Thessaloniki, Greece

,

Athanassios Evangeliou

¹4th Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, “Papageorgiou” General Hospital, Thessaloniki, Greece

› Institutsangaben

Abstract

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a mitochondrial fatty acid metabolism disorder, which results in the accumulation of butyrylcarnitine and ethylmalonic acid in blood and urine. Evidence of genotype/phenotype correlation and neuroimaging characteristics is limited compared with other inborn errors of metabolism. We report a male patient with SCADD who initially presented with seizures, metabolic acidosis, microcephaly, and developmental delay with gradual amelioration of most symptoms. MRI/MRS revealed extended multifocal leukoencephalopathy, disturbed myelination, and abnormal brain energy metabolism with low choline/creatine ratio, which indicate the need for MRI/MRS follow-up even for asymptomatic patients with SCADD.

Keywords

short-chain acyl-CoA dehydrogenase deficiency - microcephaly - leukoencephalopathy - magnetic resonance spectroscopy

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Referenzen

References
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