Zerah Michel, Kulkarni Abhaya V
Pediatric Neurosurgery Service, Groupe Hospitalier Necker Enfants Malades, Université Paris V René Descartes and INSERM U745, Paris, France.
Handb Clin Neurol. 2013;112:975-91. doi: 10.1016/B978-0-444-52910-7.00018-0.
Malformations of the spinal cord are one of the most frequent malformations. They should be clearly divided into two completely different families of malformations: open dysraphisms and occult dysraphisms. Open dysraphism mostly consists in myelomeningocele (MMC). Its incidence is 1/1000 live births with a wide variation. Folic acid supplementation has been shown to reduce its risk. In most cases, the diagnosis is done prenatally by serum screening and ultrasound and may lead to termination of pregnancy. In case of decision to continue pregnancy, surgical treatment must be achieved during the first days of life, and in 50 to 90% of cases, a ventricular shunt must be installed. The follow-up of these children must be continued throughout life looking for late complications (Chiari II and syringomyelia, vertebral problems, neuropathic bladder, tethered cord). Occult dysraphisms are a heterogeneous group of malformations. Lipomas (filum and conus) are the most frequent and their treatment remains controversial. Diastematomyelia, neurenteric cysts, dermal sinus, and more complex forms (Currarino syndrome) belong to this group. Most of them can and must be diagnosed prenatally or at birth by careful examination of the lower back for the cutaneous stigmata of the disease to decrease the risk of neurological, urological, or orthopedic permanent handicap.
脊髓畸形是最常见的畸形之一。它们应明确分为两个完全不同的畸形类别：开放性脊柱裂和隐性脊柱裂。开放性脊柱裂主要包括脊髓脊膜膨出（MMC）。其发病率为1/1000活产儿，差异很大。补充叶酸已被证明可降低其风险。在大多数情况下，通过血清筛查和超声进行产前诊断，这可能导致终止妊娠。如果决定继续妊娠，必须在出生后的头几天进行手术治疗，并且在50%至90%的病例中，必须安装脑室分流器。这些儿童的随访必须终身持续，以寻找晚期并发症（Chiari II型畸形和脊髓空洞症、脊柱问题、神经性膀胱、脊髓栓系）。隐性脊柱裂是一组异质性畸形。脂肪瘤（终丝和圆锥）最为常见，其治疗仍存在争议。脊髓纵裂、神经肠囊肿、皮样窦以及更复杂的形式（库拉里诺综合征）都属于这一类别。它们中的大多数可以而且必须在产前或出生时通过仔细检查下背部以寻找疾病的皮肤体征来进行诊断，以降低神经、泌尿或骨科永久性残疾的风险。
