Abstract：
BACKGROUND: Persistent hyperplastic primary vitreous (PHPV) in a patient with tuberous sclerosis (TS) has been described in one previous case report in 1999. Otherwise, there is no literature around this potential association. We describe a case of an infant with TS and PHPV.
METHODS: An 11-month old male was under investigation for leukocoria, microphthalmia and suspected PHPV after being seen in ophthalmology clinic. He presented to hospital with seizures and was diagnosed with TS on imaging. Imaging also showed the known microphthalmia and a mass associated with the lens. Subsequent paediatric ophthalmology review and examination under anaesthesia confirmed microphthalmia, PHPV and a retrolental mass which was thought to represent total retinal detachment or a retinal hamartoma within a retinal detachment.
CONCLUSIONS: This is the second case report of PHPV in a patient with TS. The previous case report postulated that the atypical location of the retinal hamartoma was secondary to the abnormal globe development in PHPV.
METHODS: An 11-month old male was under investigation for leukocoria, microphthalmia and suspected PHPV after being seen in ophthalmology clinic. He presented to hospital with seizures and was diagnosed with TS on imaging. Imaging also showed the known microphthalmia and a mass associated with the lens. Subsequent paediatric ophthalmology review and examination under anaesthesia confirmed microphthalmia, PHPV and a retrolental mass which was thought to represent total retinal detachment or a retinal hamartoma within a retinal detachment.
CONCLUSIONS: This is the second case report of PHPV in a patient with TS. The previous case report postulated that the atypical location of the retinal hamartoma was secondary to the abnormal globe development in PHPV.
摘要：
背景：结节性硬化症（TS）患者的持续增生性原发性玻璃体（PHPV）已在1999年的先前病例报告中进行了描述。否则,没有关于这种潜在关联的文献。我们描述了一例患有TS和PHPV的婴儿。
方法：一名11个月大的男性正在接受白血病的调查，在眼科诊所看到的小眼和疑似PHPV。他因癫痫发作住院，影像学诊断为TS。成像还显示了已知的小眼症和与晶状体相关的肿块。随后的儿科眼科检查和麻醉下的检查证实了小眼症，PHPV和视网膜后肿块，被认为代表视网膜完全脱离或视网膜脱离内的视网膜错构瘤。
结论：这是1例TS患者的PHPV的第二例报告。先前的病例报告假设视网膜错构瘤的非典型位置是PHPV中异常眼球发育的继发原因。
方法：一名11个月大的男性正在接受白血病的调查，在眼科诊所看到的小眼和疑似PHPV。他因癫痫发作住院，影像学诊断为TS。成像还显示了已知的小眼症和与晶状体相关的肿块。随后的儿科眼科检查和麻醉下的检查证实了小眼症，PHPV和视网膜后肿块，被认为代表视网膜完全脱离或视网膜脱离内的视网膜错构瘤。
结论：这是1例TS患者的PHPV的第二例报告。先前的病例报告假设视网膜错构瘤的非典型位置是PHPV中异常眼球发育的继发原因。
