title: Grange syndrome: an identifiable cause of stroke in young adults.
abstract: Grange syndrome is a disorder characterized by arterial occlusive disease, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. It was first described in four members of the same family and in two sporadic cases thereafter, suggesting the possibility of various patterns of inheritance. We report on the case of an 18-year-old female presenting with subarachnoid hemorrhage due to the rupture of a basilar artery aneurysm, and with distinctive systemic features including extensive vasculopathy, facial dysmorphisms and brachysyndactyly, consistent with the diagnosis of Grange syndrome. Although rare and not fully characterized, Grange syndrome should be included in the differential diagnosis of stroke at young age.
authors.affiliation: Dipartimento di Scienze Mediche e Chirurgiche, Clinica Neurologica, Università degli Studi di Brescia, Brescia, Italy. irene.volonghi@hotmail.it
authors.forename: Irene
authors.initials: I
authors.lastname: Volonghi
authors.forename: Michele
authors.initials: M
authors.lastname: Frigerio
authors.forename: Dikran
authors.initials: D
authors.lastname: Mardighian
authors.forename: Roberto
authors.initials: R
authors.lastname: Gasparotti
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Del Zotto
authors.forename: Alessia
authors.initials: A
authors.lastname: Giossi
authors.forename: Paolo
authors.initials: P
authors.lastname: Costa
authors.forename: Loris
authors.initials: L
authors.lastname: Poli
authors.forename: Guido
authors.initials: G
authors.lastname: Jeannin
authors.forename: Gina A
authors.initials: GA
authors.lastname: Gregorini
authors.forename: Alessandro
authors.initials: A
authors.lastname: Padovani
authors.forename: Alessandro
authors.initials: A
authors.lastname: Pezzini
mesh_terms: D000293:Adolescent; D001157:Arterial Occlusive Diseases / Q000150:complications*; D001842:Bone and Bones / Q000002:abnormalities; D059327:Brachydactyly / Q000150:complications*; D002533:Cerebral Angiography; D019066:Facies; D005260:Female; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D006973:Hypertension / Q000150:complications*; D002532:Intracranial Aneurysm / Q000175:diagnosis; D010641:Phenotype; D020521:Stroke / Q000175:diagnosis / Q000209:etiology*; D013345:Subarachnoid Hemorrhage / Q000175:diagnosis / Q000209:etiology; D013576:Syndactyly / Q000150:complications*