Background: The association of hemifacial spasm (HFS), Chiari type I malformation (CIM) and neurofibromatosis type 1 (NF1) has not been described yet.
Case report: We report the case of a 31-year-old woman with NF1 who developed a right-sided HFS. On magnetic resonance imaging (MRI) a CIM was seen without syringomyelia. The patient has been successfully treated with botulinum toxin type A injections for 5 years without major side effects.
Conclusion: Clinical features of HFS, CMI and NF1 are highlighted together with their possible relationship. Also, therapeutic strategies are also discussed.