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[Familial amyloidotic polyneuropathy type I]
Carlos Guevara1, Nelson Barrientos, Alex Flores
1Servicio de Neurología, Hospital Naval de Valparaíso. rebecarlos@hotmail.com
Revista Medica De Chile
|December 25, 2003
Summary
Familial amyloidotic polyneuropathy type I, a genetic disorder, presents with progressive nerve damage and amyloid deposits. This case highlights a young man with symptoms and genetic analysis, underscoring early diagnosis importance.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Familial amyloidotic polyneuropathy type I (FAP I) is an inherited disorder.
- It is characterized by progressive neuropathy and amyloid deposits.
- The transthyretin (TTR) gene is typically implicated.
Observation:
- A 25-year-old man presented with sensory-motor axonal polyneuropathy.
- Symptoms included dysesthesias, pain, and autonomic dysfunction (micturition and sexual).
- Sural nerve biopsy revealed amyloid fibrils in the endoneurium.
Findings:
- Neurophysiological studies confirmed a sensory-motor axonal polyneuropathy.
- Autonomic testing indicated sympathetic and parasympathetic nervous system involvement.
- The patient's mother had a history suggestive of FAP I.
Implications:
- This case underscores the clinical presentation of FAP I in a young adult.
- Early diagnosis and genetic analysis are crucial for managing FAP I.
- Understanding TTR gene mutations aids in diagnosing and potentially treating this progressive neuropathy.