Annals of Indian Academy of Neurology
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CASE REPORT
Year : 2013  |  Volume : 16  |  Issue : 2  |  Page : 279-281

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


RG Chamaria Medical Research Institute, Institute of Neurosciences, Kolkata, India

Correspondence Address:
Hrishikesh Kumar
Institute of Neurosciences, 185/1, AJC Bose Road, Kolkata - 700 017
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.112498

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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.


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