Dataset Information

A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management.

ABSTRACT: 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.

SUBMITTER: Pavanello M

PROVIDER: S-EPMC8642253 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature

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A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management.

Pavanello Marco M Fiaschi Pietro P Accogli Andrea A Severino Mariasavina M Tortora Domenico D Piatelli Gianluca G Capra Valeria V

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 20210406 12

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 bo ...[more]

PMID: 33825116

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Project description:BackgroundThe Convolvulaceae is a large family containing species exhibiting a range of breeding systems and pollinated by diverse animal taxa. We studied the pollination ecology of 15 Convolvulaceae species, representing seven genera (Argyreia Lour., Camonea Raf., Evolvulus L., Hewittia Wight & Arn., Ipomoea L., Merremia Dennst. ex Endl., and Operculina Silva Manso), in northeastern Thailand, a family that is highly diverse yet understudied in the paleotropics. Specifically, we studied their compatibility systems and degrees of pollinator dependency using pollination experiments, examined pollinator composition and visitation rates using video observation, and determined if there is an association between pollinator visitation rates and degree of pollinator dependence.ResultsOur results showed that most species are self-compatible, but the degree of pollinator dependence varies. Six species were found to be highly dependent on pollinators, as two are self-incompatible and four are self-compatible but had reduced seed set when pollinators were excluded, possibly due to herkogamy. Seven species showed low dependence on pollinators and seed set remained high when pollinators were excluded. Pollinator dependence was inconclusive for two species as seed set was low in all pollination treatments. We also found an association between pollinator visitation rates and degree of pollinator dependence. Specifically, species exhibiting high pollinator dependence received frequent visits from pollinators, while species exhibiting low pollinator dependence either received frequent visits from pollinators (and received high amounts of xenogamous pollen) or infrequent visits from pollinators (and received significantly lower amounts of xenogamous pollen). Most of our study species were primarily visited by bees (e.g., Lasioglossum, Amegilla, Apis, and meliponines), with the exception of one night-blooming species that was visited primarily by crepuscular butterflies and hawkmoths.ConclusionsThe cumulative findings of this study demonstrate how pollinator dependence is influenced by breeding system, and suggest that pollinator visitation is consistently high for species exhibiting high pollinator dependence but varies across species exhibiting low pollinator dependence. Our findings are also important for assessing the conservation risks of paleotropical Convolvulaceae.

Dataset Information

A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management.

Publications

A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management.

Similar Datasets

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