Objective: We report a very old patient who presented the clinical features of progressive supranuclear palsy (PSP) including supranuclear vertical gaze palsy with prominent cerebellar dysfunction.

Background: Niemann-Pick disease, type C (NPC) is a rare autosomal recessive lysosomal storage disorder, which rarely occurs around 60 years old.

Method: Case report.

Results: A 63 man was admitted because of progressive bulbar symptoms and gait instability. The patient noticed slurred speech and swallowing difficulty of gradual onset since 4years before admission, which have progressed. Thereafter, he also noticed unstable gait. On examination, he showed mild cognitive decline, particularly frontal lobe dysfunction along with positive snout and glabella reflex. Supranuclear vertical gaze palsy and slow saccade were found. In finger-to-nose test, dysmetria were noticed. He also complained falls once or twice a week, particularly on standing or turning. When running he revealed sustained muscle contraction in neck and upper back on the right side. MRI showed cerebellar atrophy. FP-CIT dopamine transporter image revealed mildly decreased uptake in left posterior putamen. Gene study showed compound heterozygote mutation of NPC1 gene. (c.1552 C>T; c.3176 G>A) Filipin-staining tests were also positive.

Conclusion: We report an elderly patient of NPC who presented clinically cerebellar type of PSP.
NPC should be considered as a diagnostic possibility even though being very old age when a patient shows prominent cerebellar features in the context of PSP clinically.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/niemann-pick-type-c-presenting-as-progressive-supranuclear-palsy/