scholarly journals Postoperative follow-up of a case of atypical morning glory syndrome associated with persistent fetal vasculature

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Heng Jiang ◽  
Youling Liang ◽  
Kejun Long ◽  
Jing Luo
2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Ahmad Bilal Araissi ◽  
Alaa Fayed ◽  
Youssef Helmy

Purpose. We report a case of a 1-year-old girl who was referred to us with a cerebellar anomaly and delayed growth and development for bilateral ptosis and poor fixation. Based on our ophthalmologic examination, we concluded that she has bilateral persistent fetal vasculature (PFV) with morning glory syndrome (MGS). A closer look into her neurologic condition revealed that she has Joubert’s syndrome. Observations. External examination revealed bilateral symmetrical ptosis with syndromic facies and her fundus examination revealed a large dysplastic optic disc with anomalous radiating vessels and a fibrous tissue tuft originating from the disc. The left eye showed similar findings in addition to a central excavation and a fibrovascular stalk extending from the optic disc. These findings were consistent with bilateral MGS and bilateral PFV. The brain imaging included a computed tomography scan and magnetic resonance imaging, both of which revealed a “molar tooth appearance” of the midbrain and an anomalous cerebellum suggestive of Joubert’s syndrome. Conclusions and Importance. This is the first case report of a case of bilateral MGS and bilateral PFV associated with Joubert’s syndrome. This case report documents the associated optic nerve disease in these patients, not previously described, which are additive causes of visual compromise in addition to the brain insult.


2020 ◽  
Vol 04 (06) ◽  
Author(s):  
Shigeru Sato ◽  
Takeshi Morimoto ◽  
Sayaka Tanaka ◽  
Motokazu Tsujikawa ◽  
Kohji Nishida

Author(s):  
Marco Pavanello ◽  
Pietro Fiaschi ◽  
Andrea Accogli ◽  
Mariasavina Severino ◽  
Domenico Tortora ◽  
...  

AbstractMorning 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.


2003 ◽  
Vol 45 (2) ◽  
pp. 71-76 ◽  
Author(s):  
Mutlu Sağlam ◽  
Üzeyir Erdem ◽  
Murat Kocaoğlu ◽  
Cem Tayfun ◽  
Taner Üçöz ◽  
...  

2021 ◽  
Vol 28 (2) ◽  
pp. 307-309
Author(s):  
Halit Öcal ◽  
Muhammed Batur ◽  
Erbil Seven ◽  
Serek Tekin ◽  
Muhammet Derda Ozer

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