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[Cockayne's syndrome presenting cerebral ischemic attack: case report].
No to Shinkei = Brain and Nerve
|September 1, 1986
Summary
This case report details a Cockayne syndrome patient who experienced reversible neurological deficits due to rapid atherosclerosis. Early intervention with fibrinolytic agents led to symptom resolution.
Area of Science:
- Neurology
- Genetics
- Cardiology
Background:
- Cockayne syndrome (CS) is a rare genetic disorder characterized by premature aging.
- CS typically presents with growth failure, neurological abnormalities, and photosensitivity.
Observation:
- A 29-year-old male with CS presented with acute hemiparesis and speech disturbance.
- Clinical examination revealed characteristic CS features including dwarfism, mental retardation, and sensory impairments.
- Brain imaging showed atrophy and intracranial calcifications, with suspected cerebral ischemia.
Findings:
- The patient's neurological deficits resolved with fibrinolytic therapy.
- Cerebral angiography revealed significant atherosclerotic changes, including stenoses and an aneurysm.
- Comorbidities included diabetes mellitus and hyperlipoproteinemia, contributing to accelerated atherosclerosis.
Implications:
- This case highlights the potential for rapid, premature atherosclerosis in CS patients.
- The findings raise questions about the interplay between genetic predisposition in CS and metabolic factors in vascular disease progression.
- Further research is needed to elucidate the mechanisms driving accelerated atherosclerosis in CS.