Jeelani Yasser, Mosich Gina M, McComb J Gordon
Division of Neurosurgery, Children's Hospital Los Angeles, 1300 N. Vermont Avenue, Suite #1006, CA 90027, USA.
Childs Nerv Syst. 2013 Sep;29(9):1451-7. doi: 10.1007/s00381-013-2119-3. Epub 2013 Sep 7.
Infants born with caudal regression (CR) may have serious multisystem abnormalities that require prompt attention in the neonatal period. The presence of a closed neural tube defect (NTD) that can lead to future neurological deterioration may be overlooked.
An IRB-approved retrospective review was conducted among patients with CR and a closed NTD that underwent neurosurgical operative intervention between 1996 and 2012 at a single institution.
Twenty-two patients who met the above criteria were identified. Of this group, 13 were identified and surgically addressed in the first year of life; however, nine additional children were diagnosed with a closed NTD after a year of age with progressive neurological deterioration. Of the entire group, none had any cutaneous markers that are often seen with a closed NTD.
The frequent finding of a closed NTD associated with major CR abnormalities, even in the absence of any cutaneous markers for dysraphism, recommends that infants with CR undergo a MRI screening in early infancy to exclude the presence of a closed NTD.
患有尾椎退化（CR）的婴儿可能存在严重的多系统异常，在新生儿期需要及时关注。可能导致未来神经功能恶化的闭合性神经管缺陷（NTD）可能会被忽视。
对1996年至2012年期间在单一机构接受神经外科手术干预的CR合并闭合性NTD患者进行了一项经机构审查委员会批准的回顾性研究。
确定了22名符合上述标准的患者。在这组患者中，13名在出生后第一年内被确诊并接受了手术治疗；然而，另有9名儿童在1岁以后被诊断出患有闭合性NTD，并伴有进行性神经功能恶化。在整个研究组中，没有患者有任何闭合性NTD常见的皮肤标记。
即使没有任何脊柱裂皮肤标记，CR合并主要CR异常的患者中经常发现闭合性NTD，这表明患有CR的婴儿在婴儿早期应进行MRI筛查，以排除闭合性NTD的存在。
