Retinoblastoma in Dandy-Walker Syndrome

Dandy-Walker综合征中的视网膜母细胞瘤

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Abstract

Dandy-Walker syndrome (DWS), also referred to as Dandy-Walker malformation, is a rare congenital developmental anomaly characterized by enlargement of the posterior fossa, dilatation of the fourth ventricle, and cerebellar hypoplasia with upward rotation. Retinoblastoma is the most common primary intraocular malignancy in children and typically presents in the pediatric age group, with leukocoria and strabismus being common early signs. Although DWS and retinoblastoma are individually rare, their simultaneous occurrence is exceptionally uncommon. The etiologies of both disorders have been linked to abnormalities in chromosome 13q, raising a theoretical basis for their association. However, actual co-manifestation remains scarcely reported. This report discusses what is likely the first documented case from the Indian subcontinent of bilateral retinoblastoma occurring in a child diagnosed with DWS. The coexistence of these two rare entities within a single patient raises awareness about the need for heightened vigilance in evaluating children with congenital brain anomalies for potentially life-threatening ocular malignancies.

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