Open Access Case report

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

Maria Giuseppina Cefalo1, Giovanna Stefania Colafati2, Antonino Romanzo3, Alessandra Modugno4, Rita De Vito5 and Angela Mastronuzzi1*

Author 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

For all author emails, please log on.

BMC Ophthalmology 2014, 14:80  doi:10.1186/1471-2415-14-80

Published: 17 June 2014

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.

Keywords:
Congenital cystic eye; Anophthalmia; Brain lesion; Spontaneous regression; Magnetic resonance imaging