Niemann Pick Disease – Rare Cause of Chronic Liver Disease-Case Series
Raja Taha Yaseen Khan *
Department of Gastroenterology and Hepatology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
Ghous Bux Soomro
Department of Gastroenterology and Hepatology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
Sandeep Kumar
Department of Gastroenterology and Hepatology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
Hina Ismail
Department of Gastroenterology and Hepatology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
Arshad Ali Jariko
Department of Gastroenterology and Hepatology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
Mahboob Jan
Department of Gastroenterology and Hepatology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
Ghazi Abrar
Department of Gastroenterology and Hepatology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
Danish Kumar
Department of Gastroenterology and Hepatology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
Munir Tareen
Department of Gastroenterology and Hepatology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
Muhammad Qaiser Panezai
Department of Gastroenterology and Hepatology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
Abbas Ali Tasneem
Department of Gastroenterology and Hepatology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
Syed Mudassir Laeeq
Department of Gastroenterology and Hepatology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
Farina Hanif
Department of Gastroenterology and Hepatology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
Nasir Hasan Luck
Department of Gastroenterology and Hepatology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
*Author to whom correspondence should be addressed.
Abstract
Niemann pick disease refers to a group of autosomal recessive disorder lysosomal lipid storage disorders with a multisystem involvement with a wide variety of clinical manifestations. The pathogenesis of disease is yet to be defined clearly. Here, we report to you a series of two cases including that of a three-year old girl and a four-year old boy.
Keywords: Niemann-pick disease, hepatosplenomegaly, genetic counseling