title: Pyle disease (metaphyseal dysplasia) presenting in two adult sisters.
abstract: Pyle's disease is an extremely rare skeletal disorder characterized by a benign course and an autosomal recessive genetic pattern of inheritance. Its causal mutation is still unknown. In the medical literature, fewer than 30 cases have been described to date. We report the case of two female siblings, daughters of consanguineous parents, referred to the radiology department complaining of genu valgum. Laboratory tests showed no other relevant findings. Conventional radiography plain films revealed Erlenmeyer flask deformity in bilateral femorotibial metaphyses, metaphyseal flaring of long bones, and mild sclerosis of the skull base. The clinicoradiological dissociation, along with the characteristic imaging findings, was consistent with the diagnosis of Pyle's disease. Intervention is not required in most cases, but orthopedic treatment may be required for genu valgum or fractures. Therefore, these cases emphasize the pivotal role conventional radiography plays in the correct diagnosis of this rare entity, allowing for appropriate genetic counseling.
authors.affiliation: Division of Radiology, Internal Medicine Department, Walter Cantídio University Hospital, 1290 Capitão Francisco Pedro Street, Fortaleza, Ceará 60.430-370, Brazil.
authors.forename: Diego Ximenes
authors.initials: DX
authors.lastname: Soares
authors.affiliation: School of Medicine, Internal Medicine Department, Federal University of Ceará, Fortaleza, Ceará, Brazil.
authors.forename: Amália Mapurunga
authors.initials: AM
authors.lastname: Almeida
authors.affiliation: Division of Radiology, Internal Medicine Department, Walter Cantídio University Hospital, 1290 Capitão Francisco Pedro Street, Fortaleza, Ceará 60.430-370, Brazil.
authors.forename: André Rodrigues Façanha
authors.initials: AR
authors.lastname: Barreto
authors.affiliation: School of Medicine, Internal Medicine Department, Federal University of Ceará, Fortaleza, Ceará, Brazil.
authors.forename: Ilze Jucá
authors.initials: IJ
authors.lastname: Alencar E Silva
authors.affiliation: School of Medicine, Internal Medicine Department, Division of Radiology, Federal University of Ceará, Fortaleza, Ceará, Brazil.
authors.forename: José Daniel Vieira
authors.initials: JD
authors.lastname: de Castro
authors.affiliation: Division of Radiology, Internal Medicine Department, Walter Cantídio University Hospital, 1290 Capitão Francisco Pedro Street, Fortaleza, Ceará 60.430-370, Brazil.
authors.forename: Francisco José
authors.initials: FJ
authors.lastname: Magalhães Pinto
authors.affiliation: Division of Radiology, Internal Medicine Department, Walter Cantídio University Hospital, 1290 Capitão Francisco Pedro Street, Fortaleza, Ceará 60.430-370, Brazil.
authors.forename: Daniel Aguiar
authors.initials: DA
authors.lastname: Dias
authors.affiliation: Division of Radiology, Internal Medicine Department, Walter Cantídio University Hospital, 1290 Capitão Francisco Pedro Street, Fortaleza, Ceará 60.430-370, Brazil.
authors.forename: Lindenberg Barbosa
authors.initials: LB
authors.lastname: Aguiar
keywords: Erlenmeyer flask; Metaphyseal dysplasia; Pyle's disease