Share

March 08, 2016; 86 (10) Resident and Fellow Section

Teaching Video NeuroImages: Vertical supranuclear ophthalmoparesis

A diagnostic pearl for Niemann-Pick C

Anu Gupta, Narender Kumar, Rajveer Saharan, Pulkit Rastogi, V.Y. Vishnu, Vivek Lal
First published March 7, 2016, DOI: https://doi.org/10.1212/WNL.0000000000002442
Full PDF
Citation
Permissions

Make Comment

See Comments

Downloads
575

Share

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

Figure
Figure Bone marrow biopsy

(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

REFERENCES

  1. 1.↵
    1. Sévin M,
    2. Lesca G,
    3. Baumann N,
    4. et al
    . The adult form of Niemann-Pick disease type C. Brain 2007;130:120–133.
    OpenUrlAbstract/FREE Full Text
  2. 2.↵
    1. Wijburg FA,
    2. Sedel F,
    3. Pineda M,
    4. et al
    . Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology 2012;78:1560–1567.
    OpenUrlAbstract/FREE Full Text
View Abstract

Disputes & Debates: Rapid online correspondence

No comments have been published for this article.
Comment

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.

More guidelines and information on Disputes & Debates

Compose Comment

More information about text formats

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Author Information
NOTE: The first author must also be the corresponding author of the comment.
First or given name, e.g. 'Peter'.
Your last, or family, name, e.g. 'MacMoody'.
Your email address, e.g. higgs-boson@gmail.com
Your role and/or occupation, e.g. 'Orthopedic Surgeon'.
Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.
Publishing Agreement
NOTE: All authors, besides the first/corresponding author, must complete a separate Disputes & Debates Submission Form and provide via email to the editorial office before comments can be posted.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Vertical Tabs

You May Also be Interested in

Back to top
Advertisement

Alert Me