Neurofibromatosis, type 2
ICD-10 Q85.02 is a billable code used to indicate a diagnosis of neurofibromatosis, type 2.
Neurofibromatosis type 2 (NF2) is a genetic disorder characterized by the development of bilateral vestibular schwannomas (acoustic neuromas) and other tumors of the nervous system. It is caused by mutations in the NF2 gene located on chromosome 22, which plays a crucial role in tumor suppression. Patients with NF2 may present with hearing loss, tinnitus, balance issues, and neurological deficits due to the pressure exerted by tumors on adjacent structures. The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene can cause the disorder. Diagnosis is typically made through clinical evaluation, imaging studies such as MRI, and genetic testing. Management often involves surgical intervention for tumor removal, audiological rehabilitation, and regular monitoring for tumor growth. NF2 is part of a broader category of neurofibromatosis disorders, which also includes neurofibromatosis type 1 (NF1) and schwannomatosis, each with distinct clinical features and genetic underpinnings.
Detailed family history, growth and development assessments, and any associated developmental delays.
Diagnosis of NF2 in a pediatric patient presenting with hearing loss and balance issues.
Consideration of age-related manifestations and the impact of tumors on growth and development.
Genetic counseling notes, results of genetic testing, and family pedigree charts.
Genetic counseling for families with a history of NF2 and discussion of inheritance patterns.
Importance of documenting the specific mutations identified and their implications for family members.
Used for treatment of vestibular schwannomas in NF2 patients.
Document the indication for the procedure and any imaging studies performed.
Considerations for neurosurgery and oncology specialties.
Genetic testing is crucial for confirming the diagnosis of NF2, understanding the inheritance pattern, and guiding management for affected individuals and their families.
