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罗素-西尔弗综合征合并脊髓圆锥低位。

Russell-Silver syndrome associated with low conus medullaris.

作者信息

Gabor Larisa, Canaz Huseyin, Canaz Gokhan, Kara Nursu, Alatas Ibrahim, Bozkus Hakan

机构信息

Department of Neurosurgery, Sisli Florence Nightingale Hospital, Istanbul Bilim University, Istanbul, Turkey.

Department of Neurosurgery, Haseki Training and Research Hospital, Istanbul, Turkey.

出版信息

J Pediatr Neurosci. 2016 Oct-Dec;11(4):361-363. doi: 10.4103/1817-1745.199482.

Abstract

Russell-Silver syndrome is a rare heterogeneous disorder mainly characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, clinodactyly, variation in urogenital development, and skeletal asymmetry. It is rare to come across tethered cord-associated Russell-Silver syndrome. We report a rare case of Russell-Silver syndrome associated with low conus medullaris in a 2-year-old patient with demonstrative phenotype. Magnetic resonance imaging indicated a low conus medullaris at the inferior border of the L3 vertebral body. Urodynamic study revealed detrusor-sphincter dyssynergia and detrusor overactivity. A decision to follow-up the patient was made because of the suspicion of tethered cord syndrome. Even though tethered cord syndrome is not a common finding in Russell-Silver syndrome, it is important to consider tethered cord syndrome to avoid scoliosis and other long-term complications.

摘要

罗素-西尔弗综合征是一种罕见的异质性疾病,主要特征为宫内和出生后生长迟缓、颅面不对称、小指内弯、泌尿生殖系统发育变异以及骨骼不对称。伴有脊髓栓系的罗素-西尔弗综合征较为罕见。我们报告了一例2岁具有典型表型的罗素-西尔弗综合征患儿,其合并低位圆锥。磁共振成像显示圆锥位于L3椎体下缘水平。尿动力学研究显示逼尿肌-括约肌协同失调和逼尿肌过度活动。由于怀疑存在脊髓栓系综合征,决定对该患儿进行随访。尽管脊髓栓系综合征在罗素-西尔弗综合征中并不常见,但考虑到脊髓栓系综合征对于避免脊柱侧弯和其他长期并发症很重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d12/5314858/d346e45465cb/JPN-11-361-g001.jpg

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