title: The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review.
abstract: Divry van Bogaert Syndrome (DBS) is a familial juvenile-onset disorder characterized by livedo racemosa, white matter disease, dementia, epilepsy and angiographic finding of "cerebral angiomatosis". A similar syndrome including livedo racemosa and cerebrovascular disease, often associated with anticardiolipin antibodies, has been described as Sneddon Syndrome (SS) highlighting the question whether these two conditions have to be considered different entities or indeed different features of a unique syndrome. Herein, we report the clinical, neuroradiological, histopathological findings and follow up of three cases diagnosed as Divry-van Bogaert Syndrome, including an updated review of literature of both DBS and SS cases. Our findings support the assumption that DBS and SS are different disease entities. DBS is characterized by the typical angiographic feature of angiomatosis, a hereditary trait and a juvenile onset of cognitive impairment and leukoaraiosis, whereas SS has less severe manifestations of cerebrovascular disease associated with livedo racemosa but without the characteristic cerebral angiography. The report of our cases and the literature review underline the necessity of a detailed work-up and the collection of larger series to better clarify the DBS and SS phenotype and course.
authors.affiliation: Cerebrovascular Unit, IRCCS Foundation Neurological Institute "C. Besta", Via Celoria 11, Milan 20133, Italy. Electronic address: anna.bersano@gmail.com.
authors.forename: Anna
authors.initials: A
authors.lastname: Bersano
authors.affiliation: Neuropathology and Neurology V, IRCCS Foundation Neurological Institute "C. Besta", Via Celoria 11, Milan 20133, Italy.
authors.forename: Michela
authors.initials: M
authors.lastname: Morbin
authors.affiliation: Department of Neuroradiology, IRCCS Foundation Neurological Institute "C. Besta", Via Celoria 11, Milan 20133, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Ciceri
authors.affiliation: Laboratory of Cellular Neurobiology, Cerebrovascular Unit, IRCCS Foundation Neurological Institute "C. Besta", Via Celoria 11, Milan 20133, Italy.
authors.forename: Gloria
authors.initials: G
authors.lastname: Bedini
authors.affiliation: Department of Neurology, Alfried Krupp Hospital, Alfried-Krupp-Strasse 21, 45130 Essen, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Berlit
authors.affiliation: Department of Neurology, Alfried Krupp Hospital, Alfried-Krupp-Strasse 21, 45130 Essen, Germany.
authors.forename: Michele
authors.initials: M
authors.lastname: Herold
authors.affiliation: Neuropathology and Neurology V, IRCCS Foundation Neurological Institute "C. Besta", Via Celoria 11, Milan 20133, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Saccucci
authors.affiliation: Neuropathology and Neurology V, IRCCS Foundation Neurological Institute "C. Besta", Via Celoria 11, Milan 20133, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Fugnanesi
authors.affiliation: Department of Neuroradiology, Alfried Krupp Hospital, Alfried-Krupp-Strasse 21, 45130 Essen, Germany.
authors.forename: Hannes
authors.initials: H
authors.lastname: Nordmeyer
authors.affiliation: Department of Neuroradiology, IRCCS Foundation Neurological Institute "C. Besta", Via Celoria 11, Milan 20133, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Faragò
authors.affiliation: Department of Neuroradiology, IRCCS Foundation Neurological Institute "C. Besta", Via Celoria 11, Milan 20133, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Savoiardo
authors.affiliation: Laboratory of Molecular Genetics, IRCCS Foundation Neurological Institute "C. Besta", Via Celoria 11, Milan 20133, Italy.
authors.forename: Franco
authors.initials: F
authors.lastname: Taroni
authors.affiliation: Cerebrovascular Unit, IRCCS Foundation Neurological Institute "C. Besta", Via Celoria 11, Milan 20133, Italy.
authors.forename: MariaRita
authors.initials: M
authors.lastname: Carriero
authors.affiliation: Cerebrovascular Unit, IRCCS Foundation Neurological Institute "C. Besta", Via Celoria 11, Milan 20133, Italy.
authors.forename: Battista
authors.initials: B
authors.lastname: Boncoraglio Giorgio
authors.affiliation: Dipartimento di Scienze Biomediche per la Salute, Università degli Studi di Milano, Milan, Italy; Dipartimento di Scienze Riabilitative, Istituto Auxologico Italiano, IRCCS, Milan, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Perucca
authors.affiliation: Cerebrovascular Unit, IRCCS Foundation Neurological Institute "C. Besta", Via Celoria 11, Milan 20133, Italy.
authors.forename: Luigi
authors.initials: L
authors.lastname: Caputi
authors.affiliation: Cerebrovascular Unit, IRCCS Foundation Neurological Institute "C. Besta", Via Celoria 11, Milan 20133, Italy.
authors.forename: Agostino
authors.initials: A
authors.lastname: Parati Eugenio
authors.affiliation: Department of Neurology, Alfried Krupp Hospital, Alfried-Krupp-Strasse 21, 45130 Essen, Germany.
authors.forename: Markus
authors.initials: M
authors.lastname: Kraemer
mesh_terms: D000328:Adult; D000798:Angiomatosis / Q000175:diagnosis*; D001932:Brain Neoplasms / Q000175:diagnosis*; D002339:Carotid Arteries / Q000000981:diagnostic imaging; D002533:Cerebral Angiography; D006801:Humans; D008297:Male; D012867:Skin / Q000473:pathology; D018860:Sneddon Syndrome / Q000175:diagnosis*
keywords: Cerebral angiomatosis; Diagnosis; Divry van Bogaert Syndrome; Livedo racemosa; Sneddon Syndrome; Stroke