Format

Send to

Choose Destination
Muscle Nerve. 2015 Aug;52(2):289-93. doi: 10.1002/mus.24552. Epub 2015 Feb 11.

Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.

Author information

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.

KEYWORDS:

electron transfer flavoprotein; electron transfer flavoprotein-ubiquinone oxidoreductase; fatty acid oxidation disorders; lipid storage myopathy; multiple acyl-CoA dehydrogenase deficiency

PMID:
25556768
DOI:
10.1002/mus.24552
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center