title: Congenital cystic eye associated with a low-grade cerebellar lesion that spontaneously regressed.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.forename: Maria Giuseppina
authors.initials: MG
authors.lastname: Cefalo
authors.forename: Giovanna Stefania
authors.initials: GS
authors.lastname: Colafati
authors.forename: Antonino
authors.initials: A
authors.lastname: Romanzo
authors.forename: Alessandra
authors.initials: A
authors.lastname: Modugno
authors.forename: Rita
authors.initials: R
authors.lastname: De Vito
authors.affiliation: Haematology-Oncology Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. angela.mastronuzzi@opbg.net.
authors.forename: Angela
authors.initials: A
authors.lastname: Mastronuzzi
mesh_terms: D000853:Anophthalmos / Q000175:diagnosis*; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities*; D003560:Cysts / Q000151:congenital* / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009421:Nervous System Malformations / Q000175:diagnosis*; D009916:Orbital Diseases / Q000151:congenital* / Q000175:diagnosis