Department of Child Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
Pediatr Blood Cancer. 2010 Mar;54(3):480-2. doi: 10.1002/pbc.22354.
Axenfeld-Rieger (AR) ocular anomaly might be due to deletions of different chromosomes. No association between AR, mental retardation, and retinoblastoma has been described. We report a 2-month-old female with general development delay and dysmorphic features. AR anomaly was detected, and a retinoblastoma (RB) was diagnosed in a very early stage. De novo 13q deletion was identified. Systemic chemotherapy, focal cryotherapy, transpupillary thermotherapy, brachytherapy, and intra-arterial chemotherapy were needed to control the RB. This is the first report of an association of AR, 13q deletion, and retinoblastoma, to be disclosed in patients born with such ocular and dysmorphic features.
Axenfeld-Rieger（AR）眼部异常可能是由于不同染色体的缺失所致。AR 与智力迟钝和视网膜母细胞瘤之间没有关联。我们报告了一例 2 个月大的女性，表现为全面发育迟缓伴发育异常。发现 AR 异常，并在早期诊断出视网膜母细胞瘤（RB）。检测到 13q 缺失为新生突变。需要全身化疗、局部冷冻疗法、经瞳孔温热疗法、近距离放射治疗和动脉内化疗来控制 RB。这是首次报道 AR、13q 缺失和视网膜母细胞瘤在具有此类眼部和发育异常特征的患者中存在关联。
