Congenital cystic eye associated with a low-grade cerebellar lesion that spontaneously regressed

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Abstract

Background

Congenital cystic eye is an exceedingly rare ocular malformative disease, originated from the failure in the invagination of the optic vesicle during the fetal period and it can be associated with other ocular and non-ocular abnormalities. Diagnosis is based on clinical, radiological and histological features.

Case presentation

We report a case of a congenital cystic eye associated with a cerebellar lesion accidentally detected at magnetic resonance imaging. Biopsy of the mass has not been performed due to parental rejection. Based on radiologic features and absence of clinical signs, a low-grade glioma diagnosis was hypothesized, but histological characterization was not obtained. Follow-up neuro-imaging 6 months after diagnosis showed that intracranial lesion spontaneously regressed without any treatment.

Conclusion

Our report stresses the importance of early MRI in children with ocular malformations, in order to detect associated intracranial defects, also of non-malformative origin. Additionally, we debate the clinic-radiological features of the intracranial lesions that could allow a wait-and-see policy. We also recommend a strict clinical and neuro-imaging follow-up for these lesions. Finally, biological mechanisms at the base of spontaneous regression of the brain lesions are discussed.

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Long-Term Outcome of 4,040 Children Diagnosed With Pediatric Low-Grade Gliomas: An Analysis of the Surveillance Epidemiology and End Results (SEER) Database

Pratiti Bandopadhayay, Guillaume Bergthold, Wendy B. London … (2014)

Background Children with pediatric low-grade gliomas (PLGG) are known to have excellent 10-year survival rates; however the outcomes of adult survivors of PLGG are unknown. We identified patients diagnosed with PLGG diagnosed between 1973 and 2008 through the Surveillance Epidemiology and End Results (SEER) database to examine outcomes of adult survivors of PLGG. Procedure Four thousand and forty patients with either WHO grade I or II PLGG were identified and outcome data retrieved. Two analyses were performed to assess survival and risk of death from tumor. Competing risks analysis was conducted and cumulative incidence curves of death due to disease were generated. Cox proportional hazards regression was performed, with adjustment for non-disease death. Kaplan–Meier curves for overall cancer specific survival (OS) were also generated. Results The 20-year OS was 87% ± 0.8% and the 20-year cumulative incidence of death due to glioma was 12% ± 0.8%. The incidence of death after transition to adulthood (age greater than 22 years) was slightly lower, with 20-year cumulative incidence of disease death of 7% ± 1.8%. Year of diagnosis, age of diagnosis, histology, WHO grade, primary site, radiation, and degree of initial resection were prognostic in univariate analysis, while the administration of radiation was the greatest risk of death in multivariate analysis of OS (hazard ratio = 3.9). Conclusions PLGGs are associated with an excellent long-term survival, with a low likelihood of PLGG related death in adult survivors. Treatment strategies for pediatric tumors should therefore aim for disease control during childhood and adolescence with an emphasis on minimizing long-term treatment induced toxicities.

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Orbital cysts of childhood--classification, clinical features, and management.

Jerry Shields, Carol L. Shields (2015)

There is little in the literature about the clinical spectrum of orbital cysts of childhood and no comprehensive classification has been proposed. The authors propose a classification of orbital cysts of childhood and review their clinical features, pathology, and management. The major categories in the classification include cysts of surface epithelium, teratomatous cysts, neural cysts, secondary cysts, inflammatory cysts, and noncystic lesions with cystic component. Cysts of the surface epithelium are further divided into simple epithelial cyst (epidermal, conjunctival, respiratory, and apocrine gland), and dermoid cyst (epidermal and conjunctival). Epidermal dermoid cyst (dermoid) is by far the most common orbital cystic lesion in children, accounting for over 40% of all orbital lesions of childhood and for 89% of all orbital cystic lesions of childhood that come to biopsy or surgical removal. Neural cysts include those associated with ocular maldevelopment (congenital cystic eye and colobomatous cyst) and those associated with brain and meningeal tissue (cephalocele and optic nerve meningocele). The most important secondary cyst is mucocele that can occur in children with cystic fibrosis. Inflammatory cysts are generally due to parasitic infestations and are more common in tropical areas of the world. Noncystic lesions that can have a cystic component include adenoid cystic carcinoma, rhabdomyosarcoma, lymphangioma, and others. Each type of cyst has rather characteristic, but not pathognomonic, clinical features. Computed tomography and magnetic resonance imaging can help differentiate a cystic lesion from a solid tumor, suggest the type of cyst, and help in planning management. The pathology varies with the cells that line the cyst and with the inflammatory agent. Management varies from local excision to observation, depending on the location and type of cyst. Orbital cysts of childhood can be classified into categories, based mainly on their histopathology. The clinical, radiologic, and histopathologic features can be correlated with the classification in order to better evaluate a child with a cystic lesion in the orbit.

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Persistent hyperplastic primary vitreous: congenital malformation of the eye.

S. Shastry (2009)

Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary vitreous. It is divided into anterior and posterior types and is characterized by the presence of a vascular membrane located behind the lens. The condition can be of an isolated type or can occur with other ocular disorders. Most cases of PHPV are sporadic, but it can be inherited as an autosomal dominant or recessive trait. Inherited PHPV also occurs in several breeds of dogs and cats. In a limited number of cases, Norrie disease and FZD4 genes are found to be mutated in unilateral and bilateral PHPV. These genes when mutated also cause Norrie disease pseudoglioma and familial exudative vitreoretinopathy that share some of the clinical features with PHPV. Mice lacking arf and p53 tumour suppressor genes as well as Norrie disease pseudoglioma and LRP5 genes suggest that these genes are needed for hyaloid vascular regression. These experiments also indicate that abnormalities in normal apoptosis and defects in Wnt signalling pathway may be responsible for the pathogenesis of PHPV. Identification of other candidate genes in the future may provide a better understanding of the pathogenesis of the condition that may lead to a better therapeutic approach and better management.

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Author and article information

Contributors

Maria Giuseppina Cefalo

Giovanna Stefania Colafati

Antonino Romanzo

Alessandra Modugno

Rita De Vito

Angela Mastronuzzi

Journal

Journal ID (nlm-ta): BMC Ophthalmol

Journal ID (iso-abbrev): BMC Ophthalmol

Title: BMC Ophthalmology

Publisher: BioMed Central

ISSN (Electronic): 1471-2415

Publication date Collection: 2014

Publication date (Electronic): 17 June 2014

Volume: 14

Page: 80

Affiliations

[1 ]Haematology-Oncology Department, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

[2 ]Neuroradiology Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy

[3 ]Pediatric Ophthalmology Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy

[4 ]Ocularistica Italiana of Rome, Rome, Italy

[5 ]Unit of Pathology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy

Article

Publisher ID: 1471-2415-14-80

DOI: 10.1186/1471-2415-14-80

PMC ID: 4074140

PubMed ID: 24939368

SO-VID: bfd186c4-a314-45e3-97ff-6c541ef42cb8

License:

This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

Congenital cystic eye associated with a low-grade cerebellar lesion that spontaneously regressed

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Abstract

Background

Case presentation

Conclusion

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Karger: Neurology and Neuroscience

Most cited references 38

Long-Term Outcome of 4,040 Children Diagnosed With Pediatric Low-Grade Gliomas: An Analysis of the Surveillance Epidemiology and End Results (SEER) Database

Orbital cysts of childhood--classification, clinical features, and management.

Persistent hyperplastic primary vitreous: congenital malformation of the eye.

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