{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T21:55:50Z","timestamp":1757627750654,"version":"3.44.0"},"reference-count":9,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,8,23]]},"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:p>Gaucher\u2019s disease (GD) is the most common lysosomal storage disorder inherited in an autosomal recessive pattern. It occurs due to a deficiency of the enzyme glucocerebrosidase owing to a mutation in the acid-\u03b2-glucosidase (<jats:italic>GBA1<\/jats:italic>) gene resulting in accumulation of glucocerebrosides in lysosomes of cells. It presents with abdominal distension, hepatosplenomegaly, developmental delay, pancytopenia, neurological manifestations and bone diseases. Clinical examination, bone marrow findings and enzyme studies are important tools in early diagnosis which is further confirmed by genetic studies. Enzyme replacement and symptomatic treatment is the mainstay of management. We report a male child in the first decade who presented with pancytopenia, abdominal distension, delayed milestones and chronic liver disease. Bone marrow evaluation suggested a diagnosis of GD, which was confirmed by enzyme assay and molecular study. This case report highlights the role of bone marrow biopsy and significance of early diagnosis of GD to ensure its proper management at an early stage.<\/jats:p>","DOI":"10.1136\/bcr-2025-266367","type":"journal-article","created":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T04:40:21Z","timestamp":1757479221000},"page":"e266367","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical utility of bone marrow biopsy and significance of early diagnosis of Gaucher\u2019s disease"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-2698-9822","authenticated-orcid":false,"given":"Tejasvi","family":"Sharma","sequence":"first","affiliation":[{"name":"Department of Pathology and Lab Medicine, All India Institute of Medical Sciences Jodhpur, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abhishek","family":"Purohit","sequence":"additional","affiliation":[{"name":"Department of Pathology and Lab Medicine, All India Institute of Medical Sciences Jodhpur, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4578-2184","authenticated-orcid":false,"given":"Siyaram","family":"Didel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences Jodphur, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-1058-4109","authenticated-orcid":false,"given":"Nagarjun S","family":"Jaine","sequence":"additional","affiliation":[{"name":"Department of Pathology and Lab Medicine, All India Institute of Medical Sciences Jodhpur, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,9,9]]},"reference":[{"key":"2025090921401498000_18.9.e266367.1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20676"},{"key":"2025090921401498000_18.9.e266367.2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.61.2.484"},{"key":"2025090921401498000_18.9.e266367.3","doi-asserted-by":"crossref","unstructured":"Grabowski GA , Zimran A , Ida H . Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry. American J Hematol 2015;90. doi:10.1002\/ajh.24063","DOI":"10.1002\/ajh.24063"},{"key":"2025090921401498000_18.9.e266367.4","doi-asserted-by":"crossref","DOI":"10.3390\/jcm10214890","article-title":"Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases","volume":"10","author":"Jezela-Stanek","year":"2021","journal-title":"J Clin Med"},{"key":"2025090921401498000_18.9.e266367.5","first-page":"8","article-title":"Aspectosbioqu\u00edmicos, gen\u00e9ticos y comorbilidades de la enfermedad de Gaucher, diagn\u00f3stico molecular en Cuba","volume":"6","author":"Acanda de la Rocha","year":"2012","journal-title":"Rev Cubana Genet Comunit"},{"key":"2025090921401498000_18.9.e266367.6","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.ejim.2013.09.006","article-title":"Gaucher disease: a diagnostic challenge for internists","volume":"25","author":"Cassinerio","year":"2014","journal-title":"Eur J Intern Med"},{"key":"2025090921401498000_18.9.e266367.7","first-page":"256","article-title":"Rare but important haematological conditions: Gaucher disease","volume":"45","author":"Hughes","year":"2017","journal-title":"Medicine (Abingdon)"},{"key":"2025090921401498000_18.9.e266367.8","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.bcmd.2016.10.001","article-title":"Liver involvement in Gaucher disease - Review and clinical approach","volume":"68","author":"Adar","year":"2018","journal-title":"Blood Cells Mol Dis"},{"key":"2025090921401498000_18.9.e266367.9","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.bcmd.2016.10.012","article-title":"Energy balance, glucose and lipid metabolism, cardiovascular risk and liver disease burden in adult patients with type 1 Gaucher disease","volume":"68","author":"Nascimbeni","year":"2018","journal-title":"Blood Cells Mol Dis"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-266367","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T04:40:23Z","timestamp":1757479223000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-266367"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":9,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2025,9,9]]},"published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1136\/bcr-2025-266367"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-266367","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9]]}}}