Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report
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CASE REPORT
Open Access
Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report Yiming Zheng, Yawen Zhao, Wei Zhang*, Zhaoxia Wang and Yun Yuan
Abstract Background: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare and treatable inherited lipid storage myopathy. Here, we report an elderly patient with MADD mimicking myositis. Case presentation: An 80-year-old woman had progressive weakness in her limbs, exercise intolerance, and no muscle pain for 3 months. The patient’s serum creatine kinase level was slightly elevated. The initial diagnosis was myositis. However, muscle biopsy showed many cytoplasmic vacuoles stained with oil red O, indicating the presence of lipid storage myopathy. The plasma acylcarnitine profile showed increased medium-chain and longchain acylcarnitine species, consistent with the diagnosis of MADD. Riboflavin treatment dramatically improved muscle weakness. Conclusions: MADD should be considered when evaluating elderly patients with subacute muscle weakness. Keywords: MADD, Myositis, Lipid storage myopathy, Case report
Background Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare heterogeneous inherited disease of fatty acid oxidation that can cause neuromuscular symptoms in adults and responds well to riboflavin treatment [1]. MADD is difficult to diagnose in elderly patients and may be missed without a muscle biopsy [2]. Here, we describe a case of elderly-onset MADD mimicking myositis, highlighting the need to be alert for hereditary myopathy, especially MADD, as a differential diagnosis of myositis in elderly patients. Case presentation An 80-year-old Chinese woman presented with progressive weakness in the proximal limbs and exercise intolerance for 3 months. She had difficulties in climbing stairs
and getting up from a chair and needed to rest after walking about 100 m. Her symptoms continued to worsen. Two months before admission, it was difficult for the patient to raise her arms to collect objects or comb her hair. She could only walk about 10 m unassisted. She also complained of numbness in her toes and fingers. She had no ptosis and no difficulty chewing or swallowing. She exhibited no skin rashes, muscle pain, or weakness fluctuations. The patient had lost about 10 kg of weight in the past year. She had a 10-year history of hypertension. She used sertraline to treat anxiety for about 3 years. She had no history of myopathy or taking statins. Her family history was unremarkable. Neurological evaluation showed a waddling gait and muscle weakness in the patient’s neck flexors and bilateral proximal limbs (4/5 by Medical Research Council scale). No sensory abnormality was found. Serum creatine kinase
* Correspondence: [email protected] Neurology Department, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing 100034, China © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits u
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