Unusually prominent horizontal gaze palsy in a case of Niemann-Pick type C disease.

ABSTRACT: Niemann-Pick Type C disease (NPC) is a rare inherited metabolic disorder characterized by lipid accumulation and systemic manifestations due to multiple organ involvement. Only a few cases of NPC have been reported so far from India. Varying presentations and often lack of access to complex diagnostic tests have leaded to initial misdiagnosis on few occasions. We here report a provisionally diagnosed case of NPC with prominent horizontal gaze palsy along with characteristic vertical gaze palsy and normal findings on microscopic examination of skin biopsy specimen.

SUBMITTER: Paul P 

PROVIDER: S-EPMC3724094 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature