Department of Ophthalmology (NG-C), Bnai Zion Medical Center, Haifa, Israel; Krieger Eye Research Laboratory (NG-C), Felsenstein Medical Research Center, Beilinson Hospital, Petach Tikva, Israel; The Ruth and Bruce Rappaport Faculty of Medicine (NG-C), Technion, Haifa, Israel; Sackler Faculty of Medicine (ABS, HT, SA), Tel Aviv University, Tel Aviv, Israel; Department of Radiology (JL), Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel; Department of Pediatric Oncology (HT, SA), Schneider Children's Medical Center of Israel, Petach Tikva; Israel.
J Neuroophthalmol. 2019 Sep;39(3):308-312. doi: 10.1097/WNO.0000000000000764.
The need for an extensive evaluation for neuroblastoma in children with Horner syndrome is controversial.
A retrospective study design was used. The cohort included 47 children with anisocoria who were diagnosed with Horner syndrome and 135 children with neuroblastoma evaluated at a pediatric medical center between 2007 and 2015. To detect neuroblastoma, patients with Horner syndrome underwent brain and cervical MRI, abdominal ultrasound, and/or measurement of urinary vanillylmandelic acid (VMA). The neuroblastoma group was evaluated for signs/symptoms of Horner syndrome at the time of diagnosis.
Seven patients with Horner syndrome were lost to follow-up, and the findings of the remaining 40 were categorized according to the age of the patient. Horner syndrome most frequently was idiopathic (58%), and in only 1 patient did the discovery of neuroblastoma precede the appearance of Horner syndrome. In the 21 patients aged 1-18 years, Horner syndrome was acquired in 15 patients and congenital in 6. The most common etiology was trauma (62%). Imaging was performed in 14 patients and VMA testing in 13. Neuroblastoma was diagnosed in 5 patients; in none was it related to Horner syndrome. In the 135 patients with neuroblastoma, most of the tumors were diagnosed at Stage 4 (60%) or Stage 3 (30%) with 53% originating in the abdomen. In one patient (0.74%) with signs/symptoms of Horner syndrome at diagnosis of neuroblastoma, the tumor had been identified prenatally and the diagnosis confirmed by imaging postnatally.
The absence of occult neuroblastoma in children with Horner syndrome and of signs/symptoms of Horner syndrome in the children diagnosed with neuroblastoma suggests that Horner syndrome might not be as frequent a cause of neuroblastoma as previously thought. We recommend that full investigation for neuroblastoma be reserved for suspicious cases associated with additional systemic signs or symptoms.
儿童霍纳综合征是否需要广泛评估神经母细胞瘤存在争议。
采用回顾性研究设计。该队列纳入了 2007 年至 2015 年期间在一家儿科医学中心诊断为霍纳综合征的 47 例瞳孔不等大儿童和 135 例神经母细胞瘤患儿。为了检测神经母细胞瘤，霍纳综合征患儿接受了脑和颈 MRI、腹部超声和/或尿香草扁桃酸（VMA）测量。神经母细胞瘤组在诊断时评估了霍纳综合征的体征/症状。
7 例霍纳综合征患儿失访，其余 40 例患儿根据患者年龄进行分类。霍纳综合征最常见的病因是特发性（58%），仅 1 例患儿的神经母细胞瘤先于霍纳综合征出现。在 1-18 岁的 21 例患儿中，获得性霍纳综合征 15 例，先天性霍纳综合征 6 例。最常见的病因是创伤（62%）。14 例患儿进行了影像学检查，13 例患儿进行了 VMA 检测。5 例患儿诊断为神经母细胞瘤，均与霍纳综合征无关。在 135 例神经母细胞瘤患儿中，大多数肿瘤诊断为 4 期（60%）或 3 期（30%），其中 53%起源于腹部。在 1 例（0.74%）神经母细胞瘤诊断时出现霍纳综合征体征/症状的患儿中，肿瘤在产前已被识别，出生后通过影像学检查确诊。
霍纳综合征患儿中未发现隐匿性神经母细胞瘤，神经母细胞瘤患儿中也未发现霍纳综合征体征/症状，这表明霍纳综合征可能不像之前认为的那样是神经母细胞瘤的常见病因。我们建议将神经母细胞瘤的全面检查保留给伴有其他全身体征或症状的可疑病例。
