TY - JOUR
T1 - Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG
AU - Villa, Davide
AU - Cinnante, Claudia
AU - Valcamonica, Gloria
AU - Manenti, Giulia
AU - Lanfranconi, Silvia
AU - Colombi, Annalisa
AU - Ghione, Isabella
AU - Saetti, Maria Cristina
AU - D'Amico, Mario
AU - Bonato, Sara
AU - Bresolin, Nereo
AU - Comi, Giacomo Pietro
AU - Ronchi, Dario
PY - 2020/8/26
Y1 - 2020/8/26
N2 - 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.
AB - 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.
KW - Case report
KW - Cerebrovascular disorders
KW - ENG
KW - Hereditary hemorrhagic telangiectasia
KW - Stroke
UR - http://www.scopus.com/inward/record.url?scp=85089961367&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85089961367&partnerID=8YFLogxK
U2 - 10.1186/s12883-020-01890-2
DO - 10.1186/s12883-020-01890-2
M3 - Article
C2 - 32847536
AN - SCOPUS:85089961367
VL - 20
JO - BMC Neurology
JF - BMC Neurology
SN - 1471-2377
IS - 1
M1 - 316
ER -