De Gennaro M, Lais A, Fariello G, Caldarelli M, Capozza N, Talamo M, Caione P
Department of Pediatric Urology, Bambino Gesù Children's Hospital, Rome, Italy.
Eur Urol. 1991;20(2):140-5. doi: 10.1159/000471684.
Spinal dysraphism represents a very rare congenital anomaly of the spinal cord and cauda equina, often associated with cutaneous sacral lesions. This condition results in distorsion of neural tissue, possibly leading to vesical dysfunction and urinary incontinence. A series of 12 children with spinal dysraphism (4 lipomeningoceles with tethered cord, 3 tight filum terminale, 2 dermal sinuses, 2 arachnoid cysts, 1 anterior meningocele) observed during the last 6 years is presented. The patients are divided into two groups: group A includes 5 infants (age range 4 months-2 years) and group B 7 older children (4-12 years). All 7 patients of group B were referred for urinary incontinence as their chief complaint; only 1 had evidence of a skin lesion while 3 had a club foot. In group A, 4 had skin lesions (2 asymptomatic and 2 dermal sinuses referred after several episodes of meningitis) and the 5th child had a club foot. The diagnosis was made by myelo-CT scan in the earlier 4 and by magnetic resonance imaging in the more recent 8 cases. All 12 children were operated. In group B, the patients' urinary incontinence persisted but did not worsen (3 were stable and 4 had slightly improved); in group A, 2 were dry (follow-up greater than 2 years), 1 could not be accurately evaluated because he was less than 2 years of age, and the 2 who suffered from meningitis were incontinent. Early diagnosis and neurosurgical treatment of spinal dysraphism may prevent urinary incontinence. Accurate urodynamic, neurophysiologic, and neuroradiologic evaluation of children with severe voiding anomalies or club foot is recommended even if no lumbosacral cutaneous lesions are present.
脊髓发育不良是一种非常罕见的脊髓和马尾先天性异常，常伴有骶部皮肤病变。这种情况会导致神经组织扭曲，可能导致膀胱功能障碍和尿失禁。本文介绍了过去6年中观察到的12例脊髓发育不良患儿（4例脂肪瘤型脊髓脊膜膨出合并脊髓栓系，3例终丝紧张，2例皮样窦，2例蛛网膜囊肿，1例前脊膜膨出）。患者分为两组：A组包括5名婴儿（年龄范围4个月至2岁），B组包括7名较大儿童（4至12岁）。B组的所有7名患者均以尿失禁为主诉前来就诊；只有1例有皮肤病变证据，3例有马蹄内翻足。A组中，4例有皮肤病变（2例无症状，2例皮样窦在数次脑膜炎发作后就诊），第5例患儿有马蹄内翻足。早期4例通过脊髓CT扫描诊断，最近8例通过磁共振成像诊断。所有12名儿童均接受了手术。B组患者的尿失禁持续存在但未加重（3例稳定，4例略有改善）；A组中，2例已无尿失禁（随访超过2年），1例因年龄小于2岁无法准确评估，2例患脑膜炎的患儿仍有尿失禁。脊髓发育不良的早期诊断和神经外科治疗可预防尿失禁。即使没有腰骶部皮肤病变，对于有严重排尿异常或马蹄内翻足的儿童，也建议进行准确的尿动力学、神经生理学和神经放射学评估。
