title: Bone scintigraphy as cornerstone in the diagnosis of Erdheim-Chester disease.
abstract: The Erdheim-Chester disease (ECD) is an extremely rare form of non-Langerhans cell histiocytosis. The main difficulty for its diagnosis lies in the wide variety of non-specific symptoms and signs that can occur in the disease process, leading, therefore, to there being no clear-cut algorithm as a guide for an optimal biopsy to confirm the diagnosis. An 81-year-old male with history of diabetes insipidus was admitted due to non-specific respiratory signs. Imaging techniques revealed osteoblastic lesions in the lumbar spine. Whole-body bone-scintigraphy (BS) was performed, in which lesions involving the axial and appendicular skeleton, with different rates of osteoblastic activity, were observed. This highlighted a symmetrical severely intense uptake in the knees, leading to an accurate biopsy specimen that enabled making the definitive diagnosis. BS is a widely available, safe, and inexpensive technique that shows a characteristic pattern of uptake for ECD, thus its use is highly recommended for screening and guiding biopsy if clinical suspicion exists. Furthermore, when the scintigraphy pattern is incidentally observed, biopsy of increased uptake areas (tibia preferably) is mandatory in order to rule out the disease.
authors.affiliation: Department of Nuclear Medicine, Virgen Macarena University Hospital, Seville, Spain. Electronic address: javier191185@gmail.com.
authors.forename: F J
authors.initials: FJ
authors.lastname: García-Gómez
authors.affiliation: Department of Nuclear Medicine, Virgen Macarena University Hospital, Seville, Spain.
authors.forename: T
authors.initials: T
authors.lastname: Cambil-Molina
authors.affiliation: Department of Pathology, Virgen Macarena University Hospital, Seville, Spain.
authors.forename: J J
authors.initials: JJ
authors.lastname: Ríos-Martín
authors.affiliation: Department of Nuclear Medicine, Virgen Macarena University Hospital, Seville, Spain.
authors.forename: P A
authors.initials: PA
authors.lastname: de la Riva-Pérez
authors.affiliation: Department of Nuclear Medicine, Virgen Macarena University Hospital, Seville, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Calvo-Morón
authors.affiliation: Department of Nuclear Medicine, Virgen Macarena University Hospital, Seville, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Castro-Montaño
mesh_terms: D000369:Aged, 80 and over; D001706:Biopsy; D001842:Bone and Bones / Q000000981:diagnostic imaging* / Q000473:pathology; D031249:Erdheim-Chester Disease / Q000000981:diagnostic imaging* / Q000473:pathology; D015616:Histiocytosis, Non-Langerhans-Cell; D006801:Humans; D008297:Male; D013977:Tibia / Q000000981:diagnostic imaging
keywords: Algoritmo diagnóstico; Bone scintigraphy; Diagnostic algorithm; Enfermedad de Erdheim–Chester; Erdheim–Chester disease; Gammagrafía ósea