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

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 diagnost...

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Detalles Bibliográficos
Autores principales: Paul, Pritikanta, Mondal, Banashree, Mukherjee, Arijit Kumar, Paul, Madhuparna, Kumar, Hrishikesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724094/
https://www.ncbi.nlm.nih.gov/pubmed/23956584
http://dx.doi.org/10.4103/0972-2327.112498
Descripción
Sumario: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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