De novo brain vascular malformation in an adult with hereditary hemorrhagic telangiectasia and juvenile polyposis overlap syndrome

Elisa Guan; Ana Braslavsky; Carolina Vazquez; Cristina H Besada; Manuel S Pérez Akly; Oscar Peralta; Ricardo García Mónaco; Nicolás M Ciarrocchi; Matteo Baccanelli; Marcelo M Serra

doi:10.1016/j.jstrokecerebrovasdis.2024.107726

De novo brain vascular malformation in an adult with hereditary hemorrhagic telangiectasia and juvenile polyposis overlap syndrome

J Stroke Cerebrovasc Dis. 2024 Jun;33(6):107726. doi: 10.1016/j.jstrokecerebrovasdis.2024.107726. Epub 2024 Apr 18.

Authors

Affiliations

¹ Medical student, Instituto Universitario Hospital Italiano de Buenos Aires, Argentina.
² A.R.G Argentine Rendu Study Group, Hereditary Hemorrhagic Telangiectasia Unit and Internal Medicine Department, Hospital Italiano de Buenos Aires, Argentina. Electronic address: ana.braslavsky@hospitalitaliano.org.ar.
³ A.R.G Argentine Rendu Study Group, Hereditary Hemorrhagic Telangiectasia Unit, Hospital Italiano de Buenos Aires, Argentina.
⁴ Hereditary Hemorrhagic Telangiectasia Unit and Radiology Department, Hospital Italiano de Buenos Aires, Argentina.
⁵ A.R.G Argentine Rendu Study Group, Radiology Department, Hospital Italiano de Buenos Aires, Argentina.
⁶ Hereditary Hemorrhagic Telangiectasia Unit and Intensive Therapy Unit, Hospital Italiano de Buenos Aires, Argentina.
⁷ Hereditary Hemorrhagic Telangiectasia Unit and Neurosurgical Department, Hospital Italiano de Buenos Aires, Argentina.
⁸ A.R.G Argentine Rendu Study Group, Hereditary Hemorrhagic Telangiectasia Unit and Internal Medicine Department, Hospital Italiano de Buenos Aires, Argentina.

PMID: 38642785
DOI: 10.1016/j.jstrokecerebrovasdis.2024.107726

No abstract available

Keywords: Angiodysplasia; Brain vascular malformation; Cerebrovascular diseases; Hereditary hemorrhagic telangiectasia; Intraventricular hemorrhage; Juvenile polyposis syndrome; Osler-Weber-Rendu syndrome; SMAD4 Mutation.

Publication types

Case Reports
Letter

MeSH terms

Adult
Cerebral Angiography
Female
Humans
Intestinal Polyposis / complications
Intestinal Polyposis / congenital
Intestinal Polyposis / diagnosis
Intestinal Polyposis / genetics
Intracranial Arteriovenous Malformations / complications
Intracranial Arteriovenous Malformations / diagnostic imaging
Male
Neoplastic Syndromes, Hereditary / complications
Neoplastic Syndromes, Hereditary / diagnosis
Neoplastic Syndromes, Hereditary / diagnostic imaging
Neoplastic Syndromes, Hereditary / genetics
Telangiectasia, Hereditary Hemorrhagic* / complications
Telangiectasia, Hereditary Hemorrhagic* / diagnosis

Supplementary concepts

Juvenile polyposis syndrome