Familial spinal neurofibromatosis

Area of Science:

• Genetics
• Neurology
• Oncology

Background:

• Familial spinal neurofibromatosis (FSNF) is a rare, localized subtype of neurofibromatosis type 1 (NF1).
• FSNF typically manifests neurological symptoms in adulthood, with limited familial cases reported.
• Understanding FSNF's genetic basis and clinical spectrum is crucial for diagnosis and management.

Observation:

• A three-generation family with FSNF was investigated, including a mother, son, and daughter.
• All affected members presented with bilateral spinal neurofibromas impacting all spinal roots.
• The son exhibited generalized nerve sheath tumors causing peripheral neuropathy, while the daughter had tumors affecting the optic nerve, chiasm, and cerebellum.

Findings:

• Spinal neurofibromas showed significant growth between ages 20 and 22 in the affected individuals.
• A specific mutation, G848R (2542 G > C) in NF1 exon 16, was identified in all three affected family members.
• Despite spinal tumors, overt spinal symptoms were absent in the patients.

Implications:

• This case expands the known clinical variability of FSNF and NF1.
• The findings underscore the importance of genetic testing for NF1 mutations in suspected FSNF cases.
• Further research into the genotype-phenotype correlations in FSNF is warranted.