Abstract | BACKGROUND: CASE PRESENTATION: Our patient was a 15-year-old Han Chinese boy presenting with fever, edema, and gradually increasing abdominal girth. A physical examination revealed obvious hypoevolutism and hepatomegaly, and laboratory tests and imaging examinations showed severe pulmonary interstitial fibrosis, infection, and moderate anemia. A final diagnosis of Gaucher disease was confirmed after examining the splenic pathological section derived from a splenectomy performed 6 years ago. His recovery improved after receiving anti- infection, diuresis, blood transfusion, and hepatoprotection and so on. However, enzyme replacement therapy was not adopted by our patient because his family could not afford it. CONCLUSION: A rare case of Gaucher disease is reported here to emphasize the importance of early recognition by clinical manifestation and histological findings. Gaucher disease should be considered in the differential diagnosis of children with unexplained symptoms of multiple systems.
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Authors | Meng Yang |
Journal | Journal of medical case reports
(J Med Case Rep)
Vol. 12
Issue 1
Pg. 306
(Oct 21 2018)
ISSN: 1752-1947 [Electronic] England |
PMID | 30342532
(Publication Type: Case Reports, Journal Article)
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Topics |
- Adolescent
- Fever
(etiology)
- Gaucher Disease
(complications, drug therapy)
- Hepatomegaly
(etiology)
- Humans
- Lung Diseases, Interstitial
(etiology)
- Male
- Pulmonary Fibrosis
(etiology)
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