CASE REPORT |
|
Year : 2013 | Volume
: 16
| Issue : 2 | Page : 279-281 |
|
Unusually prominent horizontal gaze palsy in a case of Niemann-Pick type C disease
Pritikanta Paul, Banashree Mondal, Arijit Kumar Mukherjee, Madhuparna Paul, Hrishikesh Kumar
RG Chamaria Medical Research Institute, Institute of Neurosciences, Kolkata, India
Correspondence Address:
Hrishikesh Kumar Institute of Neurosciences, 185/1, AJC Bose Road, Kolkata - 700 017 India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0972-2327.112498
|
|
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. |
|
|
|
[FULL TEXT] [PDF]* |
|
 |
|