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Progressive Myopathy With Multiple Symmetric Lipomatosis

Nicola Brunetti-Pierri, MD; Aziz Shaibani, MD; Shulin Zhang, PhD; Lee-Jun Wong, PhD; Marwan Shinawi, MD
Arch Neurol. 2009;66(12):1576-1577. doi:10.1001/archneurol.2009.239.
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A 56-year-old African American man was evaluated for intermittent muscle weakness, resting tremor, unsteady gait, and frequent falls. The onset of the symptoms occurred 10 years before the evaluation and was followed by a slow deterioration. At 25 years of age, the patient had 2 surgical procedures for removal of disfiguring accumulations of fat around the anterior and posterior of the neck. His medical history was otherwise unremarkable, and there was no history of alcohol abuse, diabetes mellitus, thyroid diseases, and dyslipidemia. His family history was significant for a sister who was diagnosed with multiple sclerosis, neuropathy, and narcolepsy. His mother, maternal grandmother, and maternal aunt were reported to have lipomas, but none of these individuals were known to have additional neuromuscular problems.

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Figure 1.

General appearance of the patient at 56 years of age. Note the striking abnormality in the distribution of the adipose tissue around the neck and shoulders, which is typical for multiple symmetric lipomatosis.

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Figure 2.

Muscle biopsy specimen (left biceps). A, Modified Gomori trichrome stain (original magnification, ×100) showing variation in the size and shape of the muscle fibers and increased internal nuclei (consistent with myopathy). B, The same stain (original magnification, ×400) showing a ragged red fiber (arrow), which is the pathological hallmark of mitochondrial cytopathies and represents proliferation and displacement of abnormal mitochondria.

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