title: Unusually prominent horizontal gaze palsy in a case of Niemann-Pick type C disease.
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.
authors: RG Chamaria Medical Research Institute, Institute of Neurosciences, Kolkata, India.
authors: Pritikanta
authors: P
authors: Paul
authors: Banashree
authors: B
authors: Mondal
authors: Arijit Kumar
authors: AK
authors: Mukherjee
authors: Madhuparna
authors: M
authors: Paul
authors: Hrishikesh
authors: H
authors: Kumar
keywords: Niemann-Pick Type C disease; gaze palsy; sea blue histiocyte
references: Neurol Sci. 2012 Dec;33(6):1225-32
references: 22810120
references: Clin Pediatr (Phila). 1995 Apr;34(4):190-7
references: 7789012
references: Mol Genet Metab. 2012 Jul;106(3):330-44
references: 22572546
references: Orphanet J Rare Dis. 2010 Jun 03;5:16
references: 20525256
references: J Clin Exp Hematop. 2007 Apr;47(1):19-21
references: 17510534
references: Neurology. 2009 Mar 24;72(12):1083-6
references: 19307542
references: Clin Neuropathol. 1992 Nov-Dec;11(6):293-7
references: 1473312
references: Neurology. 1995 Sep;45(9):1739-43
references: 7675237
references: World J Pediatr. 2012 Feb;8(1):61-6
references: 21633862
references: J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S429-33
references: 20882348