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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Published inAnnals of the Indian Academy of Neurology Vol. 16; no. 2; pp. 279 - 281
Main Authors Paul, Pritikanta, Mondal, Banashree, Mukherjee, Arijit, Paul, Madhuparna, Kumar, Hrishikesh
Format Journal Article
LanguageEnglish
Published India Medknow Publications 01.04.2013
Medknow Publications and Media Pvt. Ltd
Medknow Publications & Media Pvt. Ltd
Medknow Publications & Media Pvt Ltd
Wolters Kluwer Medknow Publications
Subjects
Bone marrow
Care and treatment
Case Report
Case studies
Cellular biology
Complications and side effects
Diagnosis
Extrapyramidal disorders
gaze palsy
Medical treatment
Metabolic disorders
Niemann-Pick disease
Niemann-Pick Type C disease
Patients
sea blue histiocyte
India
Niemann-Pick Type C disease
gaze palsy
sea blue histiocyte
Online AccessGet full text

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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.
AbstractList 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.
Audience Academic
Author Paul, Pritikanta
Mondal, Banashree
Mukherjee, Arijit
Kumar, Hrishikesh
Paul, Madhuparna
AuthorAffiliation RG Chamaria Medical Research Institute, Institute of Neurosciences, Kolkata, India
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  givenname: Arijit
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  givenname: Hrishikesh
  surname: Kumar
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Copyright COPYRIGHT 2013 Medknow Publications and Media Pvt. Ltd.
Copyright Medknow Publications & Media Pvt Ltd Apr-Jun 2013
Copyright: © Annals of Indian Academy of Neurology 2013
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Keywords Niemann-Pick Type C disease
gaze palsy
sea blue histiocyte
Language English
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SubjectTerms Bone marrow
Care and treatment
Case Report
Case studies
Cellular biology
Complications and side effects
Diagnosis
Extrapyramidal disorders
gaze palsy
Medical treatment
Metabolic disorders
Niemann-Pick disease
Niemann-Pick Type C disease
Patients
sea blue histiocyte
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Title Unusually prominent horizontal gaze palsy in a case of Niemann-Pick type C disease
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