{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T06:14:00Z","timestamp":1788156840571,"version":"build-2803163510"},"reference-count":9,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T00:00:00Z","timestamp":1786924800000},"content-version":"vor","delay-in-days":16,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Gaucher disease is a rare autosomal recessive lysosomal storage disorder that is caused by a deficiency of the enzyme \u201c\u03b2\u2010glucocerebrosidase\u201d, leading to the accumulation of glucocerebroside within macrophages. It commonly presents with hepatosplenomegaly, cytopenias, and bone marrow infiltration. Gaucher disease is a pan\u2010ethnic lysosomal storage disorder reported worldwide. Although few cases have been described in Pakistan and other South Asian countries, limited awareness and restricted access to diagnostic testing may contribute to underdiagnosis and delayed recognition in this region. We report the case of a 2\u2010year\u2010old girl who presented with fever and cough of 1\u2009week's duration. Her mother reported normal birth and development until 6\u2009months of age, after which she developed progressive weakness and abdominal distension. She had a history of recurrent hospitalizations for anemia, chest infections, and abdominal swelling. Family history revealed consanguinity and early childhood deaths of two siblings and one cousin with similar complaints. The clinical examination revealed pallor, weakness, and marked hepatosplenomegaly. A complete blood count showed features of pancytopenia; therefore, a bone marrow examination was advised, which demonstrated characteristic Gaucher cells, supporting a presumptive diagnosis of Gaucher disease. Symptomatic treatment was initiated, and the patient was referred to Children Hospital, Lahore, Pakistan.<\/jats:p>","DOI":"10.1002\/ccr3.73346","type":"journal-article","created":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T07:33:03Z","timestamp":1786951983000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Diagnostic Challenge of Pediatric Gaucher Disease in a Low\u2010Resource South Asian Setting: A Case Report"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-8632-7854","authenticated-orcid":false,"given":"Muhammad","family":"Waqas","sequence":"first","affiliation":[{"name":"Gomal Medical College  Dera Ismail Khan Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-5581-369X","authenticated-orcid":false,"given":"Rahila","family":"Bano","sequence":"additional","affiliation":[{"name":"Gomal Medical College  Dera Ismail Khan Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Usman","family":"Haider","sequence":"additional","affiliation":[{"name":"Geisinger Health System  Wilkes\u2010Barre Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4402-3856","authenticated-orcid":false,"given":"Kumar","family":"Abhishek","sequence":"additional","affiliation":[{"name":"HCA Centerpoint Medical Center  Kansas City Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arshad","family":"Mehmood","sequence":"additional","affiliation":[{"name":"HCA Centerpoint Medical Center  Kansas City Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-9286-6728","authenticated-orcid":false,"given":"Aqeel","family":"Abbas","sequence":"additional","affiliation":[{"name":"Jinnah Hospital  Lahore Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-5834-9375","authenticated-orcid":false,"given":"Abbas","family":"Ali","sequence":"additional","affiliation":[{"name":"Gomal Medical College  Dera Ismail Khan Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-2433-7154","authenticated-orcid":false,"given":"Talha","family":"Basheer","sequence":"additional","affiliation":[{"name":"Karachi Institute of Medical Sciences  Karachi Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-8020-9537","authenticated-orcid":false,"given":"Rafiya Muhammad","family":"Altaf","sequence":"additional","affiliation":[{"name":"Dow International Medical College  Karachi Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-4872-5603","authenticated-orcid":false,"given":"Yahya","family":"Samadi","sequence":"additional","affiliation":[{"name":"Kateb University  Kabul Afghanistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,17]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq204"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm12010085"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18020441"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.160.18.2835"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13312-018-1249-9"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-019-0759-1"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13256\u2010024\u201004902\u20108"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.3892\/etm.2021.9677"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.4103\/2230\u20108210.83402"}],"container-title":["Clinical Case 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