Jayme Heath

Document Type

Presentation

Publication Date

8-20-2009

Abstract

Object. The authors review 11 known cases of Niemann Pick type C (NPC) in New Mexican patients to better characterize the natural history and disease progression in these patients. Methods. The authors performed a retrospective review of data obtained from eleven patients with NPC seen in the Division of Pediatric Neurology at the University of New Mexico, Albuquerque, New Mexico. These patients attended routine follow up examinations conducted by a number of specialists to monitor disease progression. Conclusions. The New Mexican cohort of NPC patients displayed an earlier age of onset, increased prevalence of vertical supranuclear gaze palsy as compared to previous study groups. Also of significance was the finding of two cases of psychosis occurring in adolescent patients. These findings demonstrate the importance of examination of extraocular movements in pediatric patients. NPC is more prevalent in New Mexico and should be kept on the differential during neurologic work-up.

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