Published: 2022-07-25

Unexplained hepatosplenomegaly: a storage disorder

Jayashree S. Rao, Sravyasree Sreekantham, Meghashree Vinod Pradeep, Pradeep N.


Gaucher’s disease (GD), a lysosomal storage disorder is caused by defect in the housekeeping gene lysosomal glucocerebrosidase which is present on the first chromosome (1q22). It was first described by a French physician, Philippe Gaucher in 1882. The metabolic defect is the deficiency of the lysosomal hydrolase β-glucosidase, identified by Brady et al. Hereby we reported a 3 year 6-month-old male child presenting with mass per abdomen. Peripheral smear showed bicytopenia and bone marrow aspiration revealed normal erythropoiesis and Gaucher’s cells in a background of normal erythroid, myeloid, and megakaryocytic lineage cells. An impression of lysosomal storage disorder was given and child was evaluated further by genetic analysis. Therefore, we emphasized the importance of early recognition by clinical manifestation and histological findings.  The practicing paediatrician should have an index of suspicion for storage disorders as a differential diagnosis of children with unexplained hepatosplenomegaly. Early diagnosis of GD would lead to initiation of effective treatment with enzyme replacement which can decrease morbidity.


Hepatosplenomegaly, Lysosomal storage disorder, Gaucher's disease, Enzyme replacement therapy

Full Text:



Binesh F, Yousefi A, Ordooei M, Bagherinasab MA. Gaucher’s Disease, an Unusual Cause of Massive Splenomegaly, a Case Report. Iran J Ped Hematol Oncol. 2013;3(4):173-5.

Mahnashi MA, Sharahil MN, Ghawi AA. Gaucher’s Disease: A Case Report Haya H Ezadeen. Curr Pediatr Res. 2020;24(4):210-3.

Limgala RP, Loanou C, Plassmeyer M, Ryherd M, Kozhaya L. Time of Initiating Enzyme Replacement Therapy Affects Immune Abnormalities and Disease Severity in Patients with Gaucher Disease. Pone J. 2016;11 (12):e0168135.

Mahayani SS, Sidiartha IGL, Pratiwi IGAE. Gaucher’s Disease in a 2 Years Old Child: A Case Report. American J Pediatrics. 2020;6(3):317-21.

Mehta A. Epidemiology and natural history of Gaucher's disease. Eur J Intern Med. 2006;17:S2-5.

Brisca G, Di Rocco M, Picco P, Damasio MB, Martini A. Coxarthritis as the presenting symptom of Gaucher disease type 1. Arthritis. 2011;2011:361279.

Beutler E, Kuhl W. The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes. J Lab Clin Med. 1970;76(5):747-55.

Grabowski GA, Leslie N, Wenstrup R. Enzyme replacement therapy for Gaucher disease: The first 5 years. Blood Rev. 1998;12:115-33.

Baldellou A, Andria G, Campbell PE, Charrow J, Cohen IJ. Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring. European J Pediatric. 2004;163(2):67-75.

Dar L, Tiomkin M, Elstein D, Zimran A, Lebel E. Bone mineral density and lean muscle mass characteristics in children with Gaucher disease treated with enzyme replacement therapy or untreated. Blood Cells Molecules Dis. 2018;68:135-8.

Singla S, Ninama R, Jain B, Goyal S. Gaucher's disease: a case report. Int J Res Med Sci. 2017;5:1712-4.