J Pediatr Genet 2022; 11(02): 132-134
DOI: 10.1055/s-0040-1715119
Case Report

Wolman's Disease: A Rare Cause of Infantile Cholestasis and Cirrhosis

Jagadeesh Menon
1   Department of Pediatric Gastroenterology and Hepatology, Dr. Rela Institute & Medical Center, Bharat Institute of Higher Education and Research, Chennai, India
,
Naresh Shanmugam
1   Department of Pediatric Gastroenterology and Hepatology, Dr. Rela Institute & Medical Center, Bharat Institute of Higher Education and Research, Chennai, India
,
Sripriya Srinivas
2   Department of Radiology and Imaging, Dr. Rela Institute & Medical Center, Bharat Institute of Higher Education and Research, Chennai, India
,
Mukul Vij
3   Department of Histopathology, Dr. Rela Institute & Medical Center, Bharat Institute of Higher Education and Research, Chennai, India
,
Anil Jalan
4   Department of Pediatric Genetics, NIRMAN, Mumbai, India
,
Mettu Srinivas Reddy
5   Department of Hepatobiliary Surgery and Liver Transplantation, Dr. Rela Institute & Medical Center, Bharat Institute of Higher Education and Research, Chennai, India
,
Mohamed Rela
5   Department of Hepatobiliary Surgery and Liver Transplantation, Dr. Rela Institute & Medical Center, Bharat Institute of Higher Education and Research, Chennai, India
6   Liver Transplant Unit, King's College Hospital, London, United Kingdom
› Author Affiliations
Funding None.

Abstract

Liver cirrhosis in infancy can be secondary to various etiologies such as biliary atresia, familial cholestatic and metabolic disorders. Wolman's disease (WD) is a lysosomal storage disorder caused by the absence of lysosomal acid lipase enzyme activity and a significant association with infantile cholestasis and cirrhosis. We encountered an infant presenting with advanced cirrhosis and decompensation having splenomegaly for which the underlying etiology was found to be WD and the diagnostic clue came from abdominal X-ray showing bilateral adrenal calcifications. The diagnosis was confirmed by genetic analysis. The outcome was poor and died before 6 months of age without enzyme replacement therapy or hematopoietic stem cell transplantation.

Authors' Contributions

J.M. and N.S. prepared the manuscript. M.V. reported the bone marrow findings. A.J. reported the genetic analysis. S.R. did the proof reading. M.R. did the final proof reading and gave the approval for publishing the manuscript.




Publication History

Received: 25 May 2020

Accepted: 20 June 2020

Article published online:
20 August 2020

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