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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
[Goldboom's syndrome: prolonged febrile syndrome with dysproteinemia. Case report]
Mercedes G Vázquez1, Pablo N Affranchino2, Andrea Schon1
1Área ambulatoria, Servicio de Mediano Riesgo, Hospital de Pediatría J. P. Garrahan.
Abstract:
Goldbloom syndrome is a rare clinical entity, of unknown etiology that happens almost exclusively in pediatric population. It is a prolonged febrile syndrome with periosteal hyperostosis and dysproteinemia, and often simulates an hematooncology or lymphoproliferative disease. The diagnosis is to rule out the different causes of bone pain associated with hypergammaglobulinemia, hypoalbuminemia, high erythrocyte sedimentation rate and periostitis at the radiographies. Symptomatology, radiology and laboratory parameters refer in a variable time, usually from 3 to 12 months. We report the case of a six-year-old boy with diffuse bone pain, prolonged febrile syndrome (of 8 months of evolution), weight loss and elevated acute phase reactants with dysproteinemia (hypergammaglobulinemia and hypoalbuminemia). Goldbloom syndrome should be considered in patients with prolonged febrile syndrome and cortical hyperostosis after the exclusion of infectious, lymphoproliferative or inflammatory disease.
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