Haematology-Oncology Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
BMC Ophthalmol. 2014 Jun 17;14:80. doi: 10.1186/1471-2415-14-80.
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.
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.
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.
先天性囊状眼是一种极其罕见的眼部先天畸形疾病，源于胚胎期视囊内陷失败，可伴有其他眼部和非眼部异常。诊断基于临床、影像学和组织学特征。
我们报告了一例先天性囊状眼伴小脑病变的病例，该病变是在磁共振成像检查中意外发现的。由于家长拒绝，未对肿块进行活检。鉴于影像学特征和无临床体征，假设为低度胶质瘤，但未获得组织学特征。诊断后 6 个月的神经影像学随访显示，颅内病变自发消退，未进行任何治疗。
我们的报告强调了对眼部畸形儿童进行早期 MRI 的重要性，以便发现相关的颅内缺陷，也包括非畸形起源的缺陷。此外，我们还讨论了颅内病变的临床-影像学特征，这些特征可能允许采取观望政策。我们还建议对这些病变进行严格的临床和神经影像学随访。最后，还讨论了脑病变自发消退的生物学机制。
