Case Study on Type A Niemann Pick Disease
Journal Title: IOSR Journal of Pharmacy and Biological Sciences (IOSR-JPBS) - Year 2016, Vol 11, Issue 4
Abstract
Niemann pick disease is a congenital disorder which occurs due to defects in the lysosomal neurovisceral storage characterised by a deficiency in the enzyme, acid sphignomyelinase. This further results in the accumulation of sphignomyelin thus leading to organ failure due to progressive cellular apoptosis. There are mainly three types of NPD namely type-A,B, C1, and C2 out of which A is very rare and no treatment has been so far available which makes it a fatal disease of infancy. This case report encompasses a 30 month old female patient, who presented with intermittent fever, bilateral swelling of the feet, abdominal distress, prominent periorbital swelling and other symptoms that define type-A NPD. The onset of NPD type-A occurs at a very young age with symptoms commencing as early as 3 months and eventually death within 3 years of age. Although the patient's life may not be saved, early diagnosis and management of complications can significantly improve the life expectancy
Authors and Affiliations
2 S. Sriram,1 . , Jaleel Ahmed, 3 Saranya Saminathan, 3 Sweatha Annie, Silpa Raj
Keywords
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