Ontology highlight
ABSTRACT:
SUBMITTER: Paul P
PROVIDER: S-EPMC3724094 | biostudies-literature | 2013 Apr
REPOSITORIES: biostudies-literature
Paul Pritikanta P Mondal Banashree B Mukherjee Arijit Kumar AK Paul Madhuparna M Kumar Hrishikesh H
Annals of Indian Academy of Neurology 20130401 2
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 a ...[more]