30 YEAR OLD MALE WITH PROGRESSIVE COGNITIVE DECLINE AND ATAXIA

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Presentation transcript:

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

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

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.

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.

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;130:120-33. 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;78:1560-7. © 2015 American Academy of Neurology Gupta et al.