Related Experiment Videos
A unique case of reducing body myopathy
S Nomizu1, D A Person, C Saito
1Department of Pediatrics, Tripler Army Medical Center, Honolulu, Hawaii.
Muscle & Nerve
|April 1, 1992
Summary
This study details a 17-year-old with reducing body myopathy, the oldest reported case, presenting unique mitral valve prolapse and scoliosis. Histology revealed specific muscle fiber abnormalities, expanding the known clinical spectrum of this rare myopathy.
Area of Science:
- Neurology
- Muscle Physiology
- Genetics
Background:
- Reducing body myopathy is a rare neuromuscular disorder.
- Understanding its full clinical spectrum and underlying pathology is crucial for diagnosis and treatment.
Observation:
- A 17-year-old female patient presented with reducing body myopathy.
- This represents the oldest reported case and includes severe mitral valve prolapse and scoliosis, which are uncommon in this condition.
- Electromyography showed characteristic findings, including abnormal motor unit potentials and spontaneous activity.
Findings:
- Histological examination of the deltoid muscle revealed focal areas of large fibers, increased endomysial connective tissue, and 'split' fibers.
- Specific staining patterns (trichrome, PAS, ATPase, NADH-TR, menadione NBT) identified unique purple-gray sarcoplasmic masses.
- These masses appeared as 'empty' spaces with certain enzyme stains and stained darkly with menadione NBT.
Implications:
- The described features broaden the clinical and pathological presentation of reducing body myopathy.
- This case may contribute to a better understanding of the etiology and pathogenesis of this myopathy.
- Further research into these specific histological findings could inform future diagnostic approaches and therapeutic strategies.