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Multiple endocrine neoplasia, type 2b: phenotype recognition; neurological features and their pathological basis
Annals of Neurology
|October 1, 1979
Summary
Multiple Endocrine Neoplasia, type 2b (MEN 2b) gene expression varies, affecting autonomic and somatic nerves. Neuromas cause symptoms, including constipation and potential peroneal muscular atrophy.
Area of Science:
- Endocrinology
- Neurology
- Genetics
Background:
- Multiple Endocrine Neoplasia, type 2b (MEN 2b) is a genetic disorder.
- Previous understanding suggested limited variability in gene expression.
Purpose of the Study:
- To evaluate clinical and pathological manifestations of MEN 2b.
- To investigate the variability of MEN 2b gene expression.
- To confirm the involvement of somatic neurons in MEN 2b.
Main Methods:
- Clinical examinations
- Neurological assessments
- Nerve conduction studies
- Electromyography
- Postmortem examinations
Main Results:
- Eight of eleven clinically examined patients had symptoms, including neurogenic constipation, visual impairment, neuromuscular issues, and facial disfigurement.
- Ten of eleven patients exhibited characteristic MEN 2b features, such as Marfanlike build and neuromas.
- Postmortem findings revealed neuroma formation impacting spinal cord posterior columns.
Conclusions:
- MEN 2b gene expression is more variable than previously recognized.
- Somatic motor and sensory neurons are involved in MEN 2b.
- Neuroma formation is a key factor in MEN 2b symptomology.