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Ophthalmoplegia-plus. Its occurrence with periventricular diffuse low density on computed tomography scan
Archives of Neurology
|July 1, 1981
Summary
This study investigated familial cases of progressive external ophthalmoplegia, revealing mitochondrial abnormalities and central nervous system involvement. Corticosteroid therapy showed promise in improving muscle strength.
Area of Science:
- Neurology
- Mitochondrial Diseases
- Genetics
Background:
- Investigated familial cases exhibiting progressive external ophthalmoplegia, deafness, weakness, and hypogonadism.
- Examined the clinical and pathological features of a rare genetic disorder.
Observation:
- Muscle biopsy revealed increased glycogen, lipids, and abnormal mitochondria with paracrystalline inclusions.
- Cerebral computed tomography indicated diffuse white matter low-density, suggesting central nervous system (CNS) involvement.
Findings:
- Mitochondrial abnormalities were a key pathological finding in affected individuals.
- Evidence suggests a potential link between CNS involvement and abnormal mitochondrial metabolism in ophthalmoplegia-plus.
Implications:
- Corticosteroid therapy (prednisolone) demonstrated efficacy in restoring limb muscle strength.
- Findings contribute to understanding the complex pathophysiology of mitochondrial disorders affecting multiple organ systems.