Caroli’s disease (CD) and Niemann-Pick disease (NPD) both are two rare disorder of autosomal reces¬sive (AR) inheritance. Abnormal dilatation of the intrahepatic bile duct is the characteristic feature of CD. On the other hand, NPD type-B is a lysosomal storage disorder in which accumulation of sphingomyelin occurs in the cells of the monocyte – macrophage system of different parts of the body due to deficiency of acid sphingomyelinase (ASM). CD commonly presents with fever and right upper quadrant pain. NPD is characterized by hepato-splenomegaly, thrombocytopenia, interstitial lung disease, and dyslipidemia. In NPD most of the patients have little or no neurologic involvement. The rarity of co-existence of both the diseases in a single patient is the reason for this case report.
FAHMIDA BEGUM, KHAN LAMIA NAHID, WAHIDUZZAMAN MAZUMDER, Kanij Fatema, Kaniz Fathema, Md. Rukunuzzaman, ASM Bazlul Karim. (2021) An Unusual Association of Caroli’s Disease and Niemann-Pick Disease Type-B in a child of 3 Years: A Case Report, Pakistan Pediatric Journal, Volume 45, Issue 3.