Neurofibromatosis. Clinical overview.

Area of Science:

• Genetics
• Neurology
• Oncology

Background:

• Neurofibromatosis is a prevalent genetic disorder impacting both the central and peripheral nervous systems.
• Its effects extend to virtually all organ systems, influenced by neural and vascular factors.
• Management challenges arise from associated cognitive, behavioral, and seizure disorders.

Purpose of the Study:

• To highlight the diverse manifestations of neurofibromatosis.
• To emphasize the need for a multidisciplinary approach in managing patients.
• To inform clinicians about the protean nature of the disease.

Main Methods:

• Review of clinical manifestations across various organ systems.
• Analysis of inheritance patterns (autosomal-dominant).
• Documentation of associated neurological and psychological comorbidities.

Main Results:

• Neurofibromatosis affects individuals of all ages, presenting with a wide spectrum of symptoms.
• Tumors, both benign and malignant, can occur in the brain, spinal cord, and peripheral nerves.
• Malignant tumors may affect the airway, gastrointestinal, genitourinary tracts, and vasculature.

Conclusions:

• Neurofibromatosis presents with extensive and varied clinical features affecting multiple organ systems.
• Awareness of these diverse manifestations is crucial for effective patient care.
• A comprehensive understanding of the disorder is essential for clinicians across specialties.