1. 30 YEAR OLD MALE WITH PROGRESSIVE COGNITIVE DECLINE AND ATAXIA
Teaching NeuroImages
Neurology
Resident and Fellow Section
© 2015 American Academy of Neurology

2. Vignette 30 year old male presented with
Progressive cognitive decline for 10 years
Gait ataxia, limb ataxia, dysarthria for 5 years
Dysphagia for 3 years
Similar illness in 2 elder siblings who died in their twenties
Examination revealed
Splenomegaly
Global cognitive impairment
Vertical saccade paresis (Video)
Brisk gag reflex, pancerebellar ataxia and bipyramidal signs
Gupta et al.
© 2015 American Academy of Neurology

3. Video © 2015 American Academy of Neurology Gupta et al.
During saccade examination, the patient is able to generate horizontal saccades normally while he uses head thrust to generate vertical saccades. Horizontal and vertical pursuit is normal.
© 2015 American Academy of Neurology
Gupta et al.

4. Imaging Gupta et al. © 2015 American Academy of Neurology
Photomicrograph from bone marrow aspirate shows presence of large cells with abundant amount of cytoplasm filled with multiple vacuoles (A & B; MGG-Giemsa stain, x1000). Similar cells are also observed in the bone marrow trephine biopsy section (C; H&E x1000).
© 2015 American Academy of Neurology
Gupta et al.

5. Vertical supranuclear ophthalmoparesis: a diagnostic pearl for Niemann Pick C
Presence of vertical supranuclear ophthalmoparesis is a red flag suggestive of Niemann Pick C in young onset, progressive dementia.
References
Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, et al. The adult form of Niemann-Pick disease type C. Brain 2007;130:
2. Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, et al. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology 2012;78:
© 2015 American Academy of Neurology
Gupta et al.