{"title":"骨髓造影在戈谢病诊断中的价值:两例报告","authors":"Houari Mouna, Krichal Lina, Nasfi Abdelmalek, Latifa Jalili, Ammor Abdeslam, Chaimae Errabhi, Majda Elhassouni, Tasnim Kouame, Kaoutar Bahyat, Aissaoui Fqayeh Abderrahmane, Houari Mouna","doi":"10.36347/sjmcr.2024.v12i02.002","DOIUrl":null,"url":null,"abstract":"Among the most common constitutional overload enzymopathies, Gaucher disease is a rare constitutional overload disease and often caused by lysosomal enzyme deficiencies in pediatric population more than adults. The cause of Gaucher disease is a deficiency of glucocerebrosidase resulting in an accumulation of glucocerebroside) in macrophages. These abundant macrophages are present in the lymphoid tissues (spleen, liver, marrow, lymph node), some of which have a characteristic morphological appearance (Gaucher cell) allowing the diagnosis to be suggested during myelogram. Reporting two cases of adult patients in whom the demonstration of overload cells in the myelogram allowed us to direct towards the diagnosis of Gaucher disease.","PeriodicalId":509943,"journal":{"name":"Scholars Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Value of the Myelogram in the Diagnosis of Gaucher Disease: Two Cases Report\",\"authors\":\"Houari Mouna, Krichal Lina, Nasfi Abdelmalek, Latifa Jalili, Ammor Abdeslam, Chaimae Errabhi, Majda Elhassouni, Tasnim Kouame, Kaoutar Bahyat, Aissaoui Fqayeh Abderrahmane, Houari Mouna\",\"doi\":\"10.36347/sjmcr.2024.v12i02.002\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Among the most common constitutional overload enzymopathies, Gaucher disease is a rare constitutional overload disease and often caused by lysosomal enzyme deficiencies in pediatric population more than adults. The cause of Gaucher disease is a deficiency of glucocerebrosidase resulting in an accumulation of glucocerebroside) in macrophages. These abundant macrophages are present in the lymphoid tissues (spleen, liver, marrow, lymph node), some of which have a characteristic morphological appearance (Gaucher cell) allowing the diagnosis to be suggested during myelogram. Reporting two cases of adult patients in whom the demonstration of overload cells in the myelogram allowed us to direct towards the diagnosis of Gaucher disease.\",\"PeriodicalId\":509943,\"journal\":{\"name\":\"Scholars Journal of Medical Case Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Scholars Journal of Medical Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.36347/sjmcr.2024.v12i02.002\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Scholars Journal of Medical Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.36347/sjmcr.2024.v12i02.002","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Value of the Myelogram in the Diagnosis of Gaucher Disease: Two Cases Report
Among the most common constitutional overload enzymopathies, Gaucher disease is a rare constitutional overload disease and often caused by lysosomal enzyme deficiencies in pediatric population more than adults. The cause of Gaucher disease is a deficiency of glucocerebrosidase resulting in an accumulation of glucocerebroside) in macrophages. These abundant macrophages are present in the lymphoid tissues (spleen, liver, marrow, lymph node), some of which have a characteristic morphological appearance (Gaucher cell) allowing the diagnosis to be suggested during myelogram. Reporting two cases of adult patients in whom the demonstration of overload cells in the myelogram allowed us to direct towards the diagnosis of Gaucher disease.