An Unusual Association of Caroli’s Disease and Niemann-Pick Disease Type-B in a child of 3 Years: A Case Report | [Pakistan Paediatric Journal • 2021]

Author(s):

1. FAHMIDA BEGUM: Department of Pediatric Gastroenterology and Nutrition, BSMMU, Dhaka, Bangladesh

2. KHAN LAMIA NAHID: Department of Pediatric Gastroenterology and Nutrition, BSMMU, Dhaka, Bangladesh

3. WAHIDUZZAMAN MAZUMDER: Department of Pediatric Gastroenterology and Nutrition, BSMMU, Dhaka, Bangladesh

4. Kanij Fatema: Department of Pediatric Gastroenterology and Nutrition, BSMMU, Dhaka, Bangladesh

5. Kaniz Fathema: Department of Pediatric Gastroenterology and Nutrition, BSMMU, Dhaka, Bangladesh

6. Md. Rukunuzzaman: Department of Pediatric Gastroenterology and Nutrition, BSMMU, Dhaka, Bangladesh

7. ASM Bazlul Karim: Department of Pediatric Gastroenterology and Nutrition, BSMMU, Dhaka, Bangladesh

Abstract:

Caroli's disease (CD) and Niemann-Pick disease (NPD) both are two rare disorder of autosomal recessive (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 hepatosplenomegaly, 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.

Page(s): 363-366

DOI: DOI not available

Published: Journal: Pakistan Paediatric Journal, Volume: 45, Issue: 3, Year: 2021

Keywords:

Caroli disease , Hepatosplenomegaly , Bone marrow transplantation , Niemannpick disease , Acid sphingomyelinase

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