Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life.

ABSTRACT:

Background

Niemann-Pick disease type C (NPC) is a rare, autosomal recessive lysosomal lipid storage disorder. It may present with cerebellar ataxia, vertical supranuclear gaze palsy, and cognitive impairment, and the age of symptom onset in adult-onset NPC is usually earlier than the fourth decade.

Cases

We present 2 patients with adult-onset NPC diagnosed in the seventh decade of life. The slow motor progression and subtle findings of supranuclear vertical gaze palsy and ataxia can lead to a delayed diagnosis and misdiagnosis with parkinsonian disorders, particularly progressive supranuclear palsy.

Conclusion

This report highlights and differentiates key clinical characteristics between NPC and parkinsonian disorders. It is important to consider NPC in the differenti

SUBMITTER: Wu M 

PROVIDER: S-EPMC7604695 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature