Charles H Whitaker1, Kevin J Felice1, David Silvers2, Qian Wu3. 1. Department of Neuromuscular Medicine, Hospital for Special Care, 2150 Corbin Avenue, New Britain, Connecticut, 06053, USA. 2. Department of Neurology, Hartford Hospital, Hartford, Connecticut, USA. 3. Deparment of Pathology, University of Connecticut Health Center, Farmington, Connecticut, USA.
Abstract
INTRODUCTION: The lipid storage myopathies, primary carnitine deficiency, neutral lipid storage disease, and multiple acyl coenzyme A dehydrogenase deficiency (MADD), are progressive disorders that cause permanent weakness. These disorders of fatty acid metabolism and intracellular triglyceride degradation cause marked fat deposition and damage to muscle cells. METHODS: We describe a rapidly progressive myopathy in a previously healthy 33-year-old woman. Over 4 months, she developed a proximal and axial myopathy associated with diffuse myalgia and dysphagia, ultimately leading to respiratory failure and death. RESULTS: Muscle biopsy showed massive accumulation of lipid. Plasma acylcarnitine and urine organic acid analysis was consistent with MADD. This was confirmed by molecular genetic testing, which revealed 2 pathogenic mutations in the ETFDH gene. CONCLUSIONS: This report illustrates a late-onset case of MADD and reviews the differential diagnosis and evaluation of patients with proximal myopathy and excessive accumulation of lipid on muscle biopsy.
INTRODUCTION: The lipid storage myopathies, primary carnitine deficiency, neutral lipid storage disease, and multiple acyl coenzyme A dehydrogenase deficiency (MADD), are progressive disorders that cause permanent weakness. These disorders of fatty acid metabolism and intracellular triglyceride degradation cause marked fat deposition and damage to muscle cells. METHODS: We describe a rapidly progressive myopathy in a previously healthy 33-year-old woman. Over 4 months, she developed a proximal and axial myopathy associated with diffuse myalgia and dysphagia, ultimately leading to respiratory failure and death. RESULTS: Muscle biopsy showed massive accumulation of lipid. Plasma acylcarnitine and urine organic acid analysis was consistent with MADD. This was confirmed by molecular genetic testing, which revealed 2 pathogenic mutations in the ETFDH gene. CONCLUSIONS: This report illustrates a late-onset case of MADD and reviews the differential diagnosis and evaluation of patients with proximal myopathy and excessive accumulation of lipid on muscle biopsy.
Keywords:
electron transfer flavoprotein; electron transfer flavoprotein-ubiquinone oxidoreductase; fatty acid oxidation disorders; lipid storage myopathy; multiple acyl-CoA dehydrogenase deficiency
Authors: A Dernoncourt; J Bouchereau; C Acquaviva-Bourdain; C Wicker; P De Lonlay; C Gourguechon; H Sevestre; P-E Merle; J Maizel; C Brault Journal: Case Rep Crit Care Date: 2019-12-21