title: Non-specific symptomatogy presenting in a patient with Gaucher's disease creating a challenging diagnosis: a case report.
abstract: Gaucher's disease is the most common of the lysosomal storage diseases; however, with a current worldwide incidence of 1/75,000, it is still a rare occurrence. We present a case of Gaucher's disease type 1 in a Hispanic patient, the first incidence of this specific subtype of Gaucher's disease to be reported in Puerto Rico. Due to the patient's uncharacteristic presentation of negative initial bone marrow biopsy followed by the findings of Gaucher cells on splenic tissue examination, we investigate the specificity and sensitivity of various diagnostic methods to the disease as evidenced in the current literature. Physician awareness of an effective diagnostic approach as illustrated by this report is critical for the early diagnosis of Gaucher's disease so as to prevent disease progression and increased patient morbidity.
authors.affiliation: Medical Faculty, Ponce School of Medicine and Health Sciences, Ponce, Puerto Rico. fysla@stu.psm.edu
authors.forename: Francis
authors.initials: F
authors.lastname: Ysla
authors.forename: Carlos
authors.initials: C
authors.lastname: Llorens
authors.forename: Jorge
authors.initials: J
authors.lastname: Figueroa
authors.forename: Guillermo
authors.initials: G
authors.lastname: Bolaños
authors.forename: Roberto
authors.initials: R
authors.lastname: Velázquez
authors.forename: Edgard
authors.initials: E
authors.lastname: Belmonte
mesh_terms: D000328:Adult; D005776:Gaucher Disease / Q000175:diagnosis*; D006801:Humans; D008297:Male