ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2021
A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 2 of them syntheses that pooled it.
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7 citing papers in PubMed, 2 syntheses or guidelines pooled it, 11 citations in OpenAlex.
- Congenital trans-sellar trans-sphenoidal encephalocele: a systematic review of diagnosis, treatment, and prognosis.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2024Pooled it
- Trans-sellar-trans-sphenoidal encephalocele presenting as nasal obstruction in an infant: a case report and systematic review of existing reports.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Pooled it
- Pituitary dysfunction in trans-sellar encephalocele: a two-case report and a literature review.Endocrine journal · 2026Review
- Clinical Characteristics and Surgical Management of Symptomatic Trans-sellar Encephalocele: Two Case Reports and a Review of the Literature.NMC case report journal · 2025Article
- Morning Glory Disc Anomaly: Expanding the MR Phenotype.AJNR. American journal of neuroradiology · 2024Article
- Persisting embryonal infundibular recess (PEIR) and transsphenoidal-transsellar encephaloceles: distinct entities or constituents of one continuum?Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2022Review
- OFD1: One gene, several disorders.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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