Editorial Comment: Cerebellar Ataxia, Vertical Supranuclear Gaze Palsy, Sensorineural Deafness, Epilepsy, Dementia and Hallucinations in an Adolescent Male

The authors describe a case of Niemann-Pick disease type C, which features many typical findings. The history of difficulty with vertical gaze beginning at 2 years of age and the confirmation of a vertical supranuclear gaze palsy at 13 years, together with cerebellar dysfunction, epilepsy, cognitive decline, sensorineural hearing loss and spasticity should have pointed immediately to Niemann-Pick disease type C as the most likely diagnosis. It is not clear from the protocol if the patient had splenomegaly or if imaging studies were performed to seek evidence of organomegaly. If splenomegaly was present, the diagnosis would be confirmed for practical purposes and mitochondrial disorders could have been eliminated from the differential diagnosis, as they virtually never cause isolated splenomegaly.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research