TY - JOUR
T1 - A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management
AU - Pavanello, Marco
AU - Fiaschi, Pietro
AU - Accogli, Andrea
AU - Severino, Mariasavina
AU - Tortora, Domenico
AU - Piatelli, Gianluca
AU - Capra, Valeria
N1 - Funding Information:
Open access funding provided by Università degli Studi di Genova within the CRUI-CARE Agreement.
Publisher Copyright:
© 2021, The Author(s).
PY - 2021/12
Y1 - 2021/12
N2 - Morning glory disc anomaly is a congenital abnormality of the optic disc and peripapillary retina reported as an isolated condition or associated with various anomalies, including basal encephaloceles and moyamoya vasculopathy. However, the co-occurrence of these three entities is extremely rare and the pathogenesis is still poorly understood. Moreover, data on the surgical management and long-term follow-up of the intracranial anomalies are scarce. Here, we describe the case of a 11-year-old boy with morning glory disc anomaly, transsphenoidal cephalocele, and moyamoya vasculopathy, who underwent bilateral indirect revascularization with encephalo-duro-myo-arterio-pericranio-synangiosis at the age of 2 years, and endoscopic repair of the transsphenoidal cephalocele at the age of 6 years. A rare missense variant (c.1081T>C,p.Tyr361His) was found in OFD1, a gene responsible for a X-linked ciliopathy, the oral-facial-digital syndrome type 1 (OFD1; OMIM 311200). This case expands the complex phenotype of OFD1 syndrome and suggests a possible involvement of OFD1 gene and Shh pathway in the pathogenesis of these anomalies.
AB - Morning glory disc anomaly is a congenital abnormality of the optic disc and peripapillary retina reported as an isolated condition or associated with various anomalies, including basal encephaloceles and moyamoya vasculopathy. However, the co-occurrence of these three entities is extremely rare and the pathogenesis is still poorly understood. Moreover, data on the surgical management and long-term follow-up of the intracranial anomalies are scarce. Here, we describe the case of a 11-year-old boy with morning glory disc anomaly, transsphenoidal cephalocele, and moyamoya vasculopathy, who underwent bilateral indirect revascularization with encephalo-duro-myo-arterio-pericranio-synangiosis at the age of 2 years, and endoscopic repair of the transsphenoidal cephalocele at the age of 6 years. A rare missense variant (c.1081T>C,p.Tyr361His) was found in OFD1, a gene responsible for a X-linked ciliopathy, the oral-facial-digital syndrome type 1 (OFD1; OMIM 311200). This case expands the complex phenotype of OFD1 syndrome and suggests a possible involvement of OFD1 gene and Shh pathway in the pathogenesis of these anomalies.
KW - Anomaly
KW - Basal encephalocele
KW - Morning glory
KW - Moyamoya
KW - OFD1
KW - Phenotypic spectrum
KW - Revascularization
UR - http://www.scopus.com/inward/record.url?scp=85103879029&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85103879029&partnerID=8YFLogxK
U2 - 10.1007/s10072-021-05221-2
DO - 10.1007/s10072-021-05221-2
M3 - Article
AN - SCOPUS:85103879029
SP - 5433
EP - 5439
JO - Neurological Sciences
JF - Neurological Sciences
SN - 1590-1874
ER -