Introduction: Diagnosis of amyotrophic lateral sclerosis (ALS) requires of the exclusion of several pathologies of the cranio cervical junction that mimic ALS. The importance of such exclusion is in fact sustained by the prognostic implications that ALS has.
Case report: We report the case of a 58-year-old woman with bulbar onset sporadic ALS associated with Chiari type I malformation on the MRI of the craniocervical junction. At the time of consultation, ALS was clinically defined but some of the symptoms were contributed by cerebellar amygdala compression of the medulla.
Conclusion: To our knowledge this is the first time were both diseases are reported symptomatic on the same patient, and despite its rarity, it is important to be aware of this possible association for the diagnostic, therapeutic and prognostic implications it has.