Teaching Video NeuroImages: Vertical supranuclear ophthalmoparesis
A diagnostic pearl for Niemann-Pick C
Citation Manager Formats
Make Comment
See Comments

A 30-year-old man presented with 10 years of progressive cognitive decline (poor academic performance followed by forgetfulness and calculation and visuospatial difficulties), 5 years of gait and limb ataxia and dysarthria, and 3 years of dysphagia. His 2 elder siblings had similar symptoms and died in their 20s. Examination revealed splenomegaly, global cognitive impairment, brisk gag reflex, pancerebellar ataxia, bipyramidal signs, and vertical saccade paresis (video on the Neurology® Web site at Neurology.org). Vertical pursuit was preserved. Bone marrow aspirate and trephine biopsy revealed non-Gaucher-type storage foam cells (figure). Considering the diagnosis of Niemann-Pick C, he was treated symptomatically. Vertical supranuclear ophthalmoparesis is a red flag suggestive of Niemann-Pick C in young-onset dementia.1,2
(A and B) Photomicrograph from bone marrow aspirate shows presence of large cells with abundant amount of cytoplasm filled with multiple vacuoles (red arrows) suggesting the morphology of Niemann-Pick disease (May-Grünwald-Giemsa stain, ×1,000). (C) Similar cells (blue arrows) are also observed in the bone marrow trephine biopsy section (hematoxylin & eosin, ×1,000).
AUTHOR CONTRIBUTIONS
A.G. collected information, prepared the draft, and reviewed the manuscript. N.K. collected information and prepared the draft. R.S. collected the information and prepared the draft. P.R. collected information and prepared the draft. V.Y.V. prepared the draft and reviewed the manuscript. V.L. edited and reviewed the manuscript. All authors reviewed, edited, and approved the final version.
STUDY FUNDING
No targeted funding reported.
DISCLOSURE
The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.
Footnotes
Supplemental data at Neurology.org
Download teaching slides: Neurology.org
- © 2016 American Academy of Neurology
REFERENCES
Disputes & Debates: Rapid online correspondence
NOTE: All authors' disclosures must be entered and current in our database before comments can be posted. Enter and update disclosures at http://submit.neurology.org. Exception: replies to comments concerning an article you originally authored do not require updated disclosures.
- Stay timely. Submit only on articles published within the last 8 weeks.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- 200 words maximum.
- 5 references maximum. Reference 1 must be the article on which you are commenting.
- 5 authors maximum. Exception: replies can include all original authors of the article.
- Submitted comments are subject to editing and editor review prior to posting.