Domínguez-Varela Irving Armando, Aguilera-Partida Jorge A, Dalvin Lauren A, Garza-Garza Lucas A, Thompson-García Leslie M, Barbosa-Quintana Álvaro, Ancona-Lezama David
Ocular Oncology Service, Institute of Ophthalmology and Visual Sciences, Tecnologico de Monterrey, Monterrey, Mexico.
Ophthalmological Clinic, Santa Lucía, Guadalajara, Jalisco, Mexico.
Eur J Ophthalmol. 2022 May;32(3):NP71-NP74. doi: 10.1177/1120672121994487. Epub 2021 Feb 10.
To report a case of a Hispanic girl with late-onset Retinoblastoma (Rb) who was misdiagnosed as a pars planitis prior to referral. Nearly 95% of all Rb cases are detected before age 5, and this patient was 8 years-old.
Case report of a late-onset Retinoblastoma with anterior chamber (AC) involvement plus the presence of an Ahmed valve. The patient had a history of a couple of months of topical therapy comprising medication for glaucoma, systemic steroids, and a filtration surgery (Ahmed valve), after that a biopsy was performed prior to referral. Upon arrival at our clinic, we performed an examination under anesthesia (EUA) and a B-scan ultrasound (US).
Unilateral Retinoblastoma with an Ahmed valve in an AC filled with Rb seeds was diagnosed with the EUA and US in the left eye. An orbital exenteration with map biopsies of the left orbital cavity was performed with confirmation by histopathology of a poorly differentiated endophytic retinoblastoma with Bruch's membrane invasion. Follow-up sessions were then arranged as well as subsequent systemic chemotherapy cycles.
Given the rare incidence of retinoblastoma in children older than 5 years old, it can be easily mistaken for other differential diagnoses and treated with filtration surgeries that could put the patient's life at risk. In this report, late-onset Rb diagnosis is highlighted as a differential diagnosis in children and adults with atypical uveitis, which required a multidisciplinary approach.
报告一例西班牙裔女孩,患有迟发性视网膜母细胞瘤(Rb),在转诊前被误诊为周边葡萄膜炎。几乎所有Rb病例的95%在5岁前被发现,而该患者为8岁。
报告一例迟发性视网膜母细胞瘤合并前房(AC)受累及艾哈迈德引流阀植入的病例。患者有几个月的局部治疗史,包括青光眼用药、全身使用类固醇以及一次滤过手术(艾哈迈德引流阀植入),之后在转诊前行活检。到达我们诊所后,我们进行了麻醉下检查(EUA)和B超检查(US)。
通过EUA和US诊断为左眼单侧视网膜母细胞瘤,前房内有艾哈迈德引流阀且充满Rb瘤细胞。对左眼眶进行了眼眶内容物剜除术及眼眶腔地图式活检,组织病理学证实为低分化内生性视网膜母细胞瘤伴布鲁赫膜侵犯。随后安排了随访及后续的全身化疗周期。
鉴于5岁以上儿童视网膜母细胞瘤的发病率较低,很容易被误诊为其他疾病,并接受可能危及患者生命的滤过手术治疗。在本报告中,迟发性Rb诊断被强调为非典型葡萄膜炎儿童和成人的鉴别诊断,这需要多学科方法。