title: Positive heterophile antibody test and massive splenomegaly in an adolescent with previously unsuspected Gaucher disease.
abstract: Mild splenomegaly is common in patients with Epstein-Barr virus-associated infectious mononucleosis. Massive splenomegaly, however, is rare and requires further evaluation to exclude other causes. We report an adolescent girl with previously undiagnosed type 1 Gaucher disease who presented with massive splenomegaly. The diagnosis of her underlying condition was hampered by the presence of a positive heterophile antibody test for infectious mononucleosis.
authors.affiliation: *Division of General Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA; †Division of Infectious Diseases, The Children's Hospital of Philadelphia, Philadelphia, PA; ‡Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA.
authors.forename: Stella T
authors.initials: ST
authors.lastname: Chou
authors.forename: Samir S
authors.initials: SS
authors.lastname: Shah
authors.forename: Richard L
authors.initials: RL
authors.lastname: Hodinka
authors.forename: Alan R
authors.initials: AR
authors.lastname: Cohen
mesh_terms: D000293:Adolescent; D000910:Antibodies, Heterophile / Q000097:blood*; D000914:Antibodies, Viral / Q000097:blood*; D000918:Antibody Specificity; D001856:Bone Marrow Examination; D003951:Diagnostic Errors; D005189:False Positive Reactions; D005221:Fatigue / Q000209:etiology; D005260:Female; D005334:Fever / Q000209:etiology; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis* / Q000276:immunology; D005962:Glucosylceramidase / Q000097:blood / Q000172:deficiency; D006529:Hepatomegaly / Q000209:etiology; D004854:Herpesvirus 4, Human / Q000276:immunology*; D006801:Humans; D007244:Infectious Mononucleosis / Q000175:diagnosis* / Q000276:immunology; D010612:Pharyngitis / Q000209:etiology; D013156:Splenectomy; D013163:Splenomegaly / Q000209:etiology* / Q000601:surgery
chemical_list: D000910:Antibodies, Heterophile; D000914:Antibodies, Viral; D005962:Glucosylceramidase