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

Abstract

BackgroundCongenital 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 presentationWe 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.ConclusionOur 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.

Management of Congenital Clinical Anophthalmos with Orbital Cyst: A Kinshasa Case Report

“…There is no standardized protocol for managing a congenital cystic eye [ 20 ]. A volume reduction by cyst puncturing or surgical interventions like complete cyst removal with insertion of an orbital expander, followed by prosthetic fitting to receive an optimal cosmetic result, are indicated [ 6 , 21 , 22 ].…”

Congenital Cyst Eye, One Clinical Case

“…Where the eye fails to develop correctly in utero and is replaced by benign, fluid-filled tissue. The exact aetiology of congenital cystic eye remains unknown [10,11] genetic investigations performed in few cases have not yielded any peculiar defects [12,13,14], the frequent presence of inflammatory cells in the cyst suggests an inflammatory cause [10,11,15,16]. It is thought to result from non invagination of the primary optic nerve vesicle between the 2 mm and 7 mm stages of the embryonic development [16], and ectodermal elements do not develop into the future eye structures.…”

“…There is no standardized protocol for management of the congenital cystic eye [14]. Surgical intervention is strongly advised in order to obtain an optimal cosmetic.…”

“…Robb et al [19] reported a case of congenital cystic eye in which an initial attempt for excision was followed by recurrence of the cyst in the orbit after three months. Based on their experience, they concluded that every effort should be made to totally excise the congenital cystic eye when surgical removal is undertaken, due to the risk of recurrence [14]. for us also the concern was cosmetic, after orbitotomy and excision the orbital mass we tried to preserving the eyelids and put the prosthetic eye.…”