Background: Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare disorder characterized by recurrent epistaxis, telangiectasias and systemic arteriovenous malformations (AVMs). HHT is associated with mutations in genes encoding for proteins involved in endothelial homeostasis such as ENG (endoglin) and ACVRL1 (activin receptor-like kinase-1). Case presentation: Here we describe a 22-year-old male presenting with a transient episode of slurred speech and left arm paresis. Brain MRI displayed polymicrogyria. A right-to-left shunt in absence of an atrial septum defect was noted. Chest CT revealed multiple pulmonary AVMs, likely causing paradoxical embolism manifesting as a transient ischemic attack. The heterozygous ENG variant, c.3G > A (p.Met1lle), was detected in the patient. This variant was also found in patient's mother and in his younger brother who displayed cortical dysplasia type 2. Conclusions: The detection of cortical development malformations in multiple subjects from the same pedigree may expand the phenotypic features of ENG-related HHT patients. We suggest considering HHT in young patients presenting with acute cerebral ischemic events of unknown origin.
Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG / D. Villa, C. Cinnante, G. Valcamonica, G. Manenti, S. Lanfranconi, A. Colombi, I. Ghione, M.C. Saetti, M. D'amico, S. Bonato, N. Bresolin, G.P. Comi, D. Ronchi. - In: BMC NEUROLOGY. - ISSN 1471-2377. - 20:1(2020 Aug 26).
|Titolo:||Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG|
CINNANTE, CLAUDIA MARIA (Secondo)
COMI, GIACOMO PIETRO (Penultimo)
RONCHI, DARIO (Ultimo) (Corresponding)
|Parole Chiave:||Case report; Cerebrovascular disorders; ENG; Hereditary hemorrhagic telangiectasia; Stroke|
|Settore Scientifico Disciplinare:||Settore MED/26 - Neurologia|
Settore MED/03 - Genetica Medica
|Data di pubblicazione:||26-ago-2020|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1186/s12883-020-01890-2|
|Appare nelle tipologie:||01 - Articolo su periodico|