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...

Descripción completa

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
_version_ 1782476645618155520
author Paul, Pritikanta
Mondal, Banashree
Mukherjee, Arijit Kumar
Paul, Madhuparna
Kumar, Hrishikesh
author_facet Paul, Pritikanta
Mondal, Banashree
Mukherjee, Arijit Kumar
Paul, Madhuparna
Kumar, Hrishikesh
author_sort Paul, Pritikanta
collection PubMed
description 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.
format Online
Article
Text
id pubmed-3724094
institution National Center for Biotechnology Information
language English
publishDate 2013
publisher Medknow Publications & Media Pvt Ltd
record_format MEDLINE/PubMed
spelling pubmed-37240942013-08-16 Unusually prominent horizontal gaze palsy in a case of Niemann-Pick type C disease Paul, Pritikanta Mondal, Banashree Mukherjee, Arijit Kumar Paul, Madhuparna Kumar, Hrishikesh Ann Indian Acad Neurol Case Report 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. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3724094/ /pubmed/23956584 http://dx.doi.org/10.4103/0972-2327.112498 Text en Copyright: © Annals of Indian Academy of Neurology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Paul, Pritikanta
Mondal, Banashree
Mukherjee, Arijit Kumar
Paul, Madhuparna
Kumar, Hrishikesh
Unusually prominent horizontal gaze palsy in a case of Niemann-Pick type C disease
title Unusually prominent horizontal gaze palsy in a case of Niemann-Pick type C disease
title_full Unusually prominent horizontal gaze palsy in a case of Niemann-Pick type C disease
title_fullStr Unusually prominent horizontal gaze palsy in a case of Niemann-Pick type C disease
title_full_unstemmed Unusually prominent horizontal gaze palsy in a case of Niemann-Pick type C disease
title_short Unusually prominent horizontal gaze palsy in a case of Niemann-Pick type C disease
title_sort unusually prominent horizontal gaze palsy in a case of niemann-pick type c disease
topic Case Report
url 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
work_keys_str_mv AT paulpritikanta unusuallyprominenthorizontalgazepalsyinacaseofniemannpicktypecdisease
AT mondalbanashree unusuallyprominenthorizontalgazepalsyinacaseofniemannpicktypecdisease
AT mukherjeearijitkumar unusuallyprominenthorizontalgazepalsyinacaseofniemannpicktypecdisease
AT paulmadhuparna unusuallyprominenthorizontalgazepalsyinacaseofniemannpicktypecdisease
AT kumarhrishikesh unusuallyprominenthorizontalgazepalsyinacaseofniemannpicktypecdisease

Ejemplares similares