Ushida Hiroshi, Ikari Ryo
Department of Urology, Gakkentoshi Hospital, Kyoto, JPN.
Department of Urology, Japan Community Health Care Organization Shiga Hospital, Otsu, JPN.
Cureus. 2025 May 21;17(5):e84520. doi: 10.7759/cureus.84520. eCollection 2025 May.
Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is an autosomal dominant disorder characterized by multiple café-au-lait macules and cutaneous neurofibromas. Although neurofibromas are common in NF1, involvement of the urinary tract is rare, with the bladder being the most frequently affected site. Urachal neurofibromas are extremely rare, and their diagnosis and management remain challenging due to nonspecific imaging characteristics and their often asymptomatic presentation. We report the case of a 30-year-old man with clinical features of NF1 in whom a 5-cm mass at the bladder dome was incidentally identified on MRI performed during evaluation for spinal cord symptoms. Imaging revealed a cone-shaped mass in the urachal region, and cystoscopy showed no mucosal abnormalities. Urinalysis and urine cytology were unremarkable. A transabdominal needle biopsy confirmed the diagnosis of a neurofibroma. Given the tumor's size (>5 cm) and deep-seated location in the trunk, both known risk factors for malignant transformation, surgical excision was performed, including resection of the urachus and bilateral umbilical ligaments. Histopathological analysis confirmed a plexiform neurofibroma consistent with NF1. The postoperative course was uneventful, with no evidence of recurrence during 36 months of follow-up. This case highlights the rare presentation of a urachal plexiform neurofibroma in a patient with NF1. To reduce the potential risk of malignant transformation associated with plexiform neurofibromas larger than 5 cm and located in deep trunk regions, accurate diagnosis and timely surgical intervention are essential, even in asymptomatic cases.
1型神经纤维瘤病(NF1),也称为冯雷克林霍增氏病,是一种常染色体显性疾病,其特征为多发性咖啡牛奶色斑和皮肤神经纤维瘤。虽然神经纤维瘤在NF1中很常见,但泌尿道受累情况罕见,膀胱是最常受影响的部位。脐尿管神经纤维瘤极其罕见,由于其影像学特征不具特异性且通常无症状,其诊断和治疗仍然具有挑战性。我们报告一例30岁男性患者,其具有NF1的临床特征,在因脊髓症状进行评估时行MRI检查,偶然发现膀胱顶部有一个5厘米的肿块。影像学显示脐尿管区域有一个锥形肿块,膀胱镜检查未发现黏膜异常。尿液分析和尿细胞学检查无异常。经腹针吸活检确诊为神经纤维瘤。鉴于肿瘤大小(>5厘米)以及位于躯干深部这两个已知的恶变危险因素,遂进行了手术切除,包括切除脐尿管和双侧脐韧带。组织病理学分析证实为符合NF1的丛状神经纤维瘤。术后过程顺利,在36个月的随访期间无复发迹象。该病例突出了NF1患者中脐尿管丛状神经纤维瘤的罕见表现。为降低与大于5厘米且位于躯干深部的丛状神经纤维瘤相关的恶变潜在风险,即使在无症状病例中,准确诊断和及时手术干预也至关重要。
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