We present a rare case of Niemann-Pick disease type C (NP-C), diagnosed at age 35 with an initial symptom of supranuclear palsy. 

Niemann-Pick disease type C (NP-C) is an autosomal recessive neurometabolic disorder that is rarely diagnosed in adulthood. It can be neurologically associated with cognitive decline, various movement disorders (ataxia, chorea, dystonia, and myoclonus), supranuclear gaze palsy, and seizures. Most adult NP-C patients first develop symptoms in childhood and have a slowly progressive disease course. Supranuclear palsy may be a first sign of the disease.

Single case study

A 46-year-old male with a past medical history of NP-C was admitted to the hospital for respiratory distress. He was noted to have an a supranuclear gaze palsy. The patient first saw a neurologist approximately 12 years prior to his current hospital admission when he began experiencing difficulties moving his eyes.  The patient was evaluated by multiple neurologists and was ultimately diagnosed with Niemann-Pick disease type C1 through genetic testing at the age of 35. Mutation analysis of Niemann-Pick type C gene identified two mutations. He started treatment with miglustat but the patient’s condition progressively deteriorated over the last 6 years.

NP-C should be considered in an adult patient who develops supranuclear palsy, particularly when parkinsonism is not present, as in Progressive Supranuclear Palsy. While no cure exists for NP-C, timely diagnosis and treatment can improve a patient’s quality of life by slowing the progression of the disease.