Case study of an inborn error manifested in the elderly: A woman with adult-onset mitochondrial disease mimicking systemic vasculitis.
Mitochondrial diseases are a group of disorders presenting mainly during infancy due to pathological dysfunction of the mitochondrial respiratory chain. We report a case of mitochondrial disease in an elderly woman complaining of generalized myalgia. A 69-year-old woman was admitted due to fatigue, general weakness, and a drowsy mental status. A brain magnetic resonance imaging (MRI) demonstrated multifocal lesions of increased T2 signal intensity, and laboratory findings were consistent with Fanconi syndrome. During her hospital course, she developed seizures, stress-induced cardiomyopathy, and respiratory failure. A muscle biopsy demonstrated ragged-red fibers in the muscle tissues seen in mitochondrial myopathy. We confirmed an 8 kb deletion in her mitochondrial DNA. Following treatment with l-carnitine, coenzyme Q10, and supportive measures, brain lesions on MRI scans disappeared, and the general symptoms gradually improved.
['Lee|Jae Hyun|JH|https://orcid.org/0000-0002-5668-4793', 'Kim|Min Jung|MJ|', 'Park|Sung-Hye|SH|', 'Chae|Jong-Hee|JH|', 'Shin|Kichul|K|https://orcid.org/0000-0002-6749-7598']
D017668:Age of Onset D000368:Aged D003937:Diagnosis, Differential D005198:Fanconi Syndrome D005260:Female D006801:Humans D017240:Mitochondrial Myopathies D011237:Predictive Value of Tests D011379:Prognosis D056647:Systemic Vasculitis
Fanconi syndrome mitochondrial myopathy MELAS