索托斯综合征患者合并脊髓拴系综合征的首例报告。

First report of tethered cord syndrome in a patient with Sotos syndrome.

作者信息

Kuzucu Pelin, Türkmen Tolga, Börcek Alp Özgün

机构信息

Division of Pediatric Neurosurgery, Gazi University Faculty of Medicine, Gazi Üniversitesi. Beyin ve Sinir Cerrahisi. C blok. 1 Kat., Yenimahalle, 06760, Ankara, Turkey.

出版信息

BMC Pediatr. 2020 Apr 24;20(1):183. doi: 10.1186/s12887-020-02068-y.

DOI:10.1186/s12887-020-02068-y

PMID:32331522

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7181482/

Abstract

BACKGROUND

Sotos syndrome is caused by a gene deletion with an autosomal dominant pattern of inheritance. The Sotos syndrome was first described by Juan Sotos. Cole and Hughes identified the clinical characteristics of this syndrome. This syndrome is characterized by macrocephaly, frontal bossing, ocular hypertelorism, overgrowth, subdural hygroma, ventricular dilatation, agenesis of the corpus callosum. This syndrome is associated with mutations in NSD 1 (nuclear receptor SET domain-containing protein 1) gene, protein insufficiency, and a 5q35 microdeletion. Sotos syndrome is reported to occur in approximately 1/10,000-15,000 births.

CASE PRESENTATION

We present a patient with Sotos syndrome who is harboring a sacral lipoma and tethered cord syndrome and she had growth retardation, frontal bossing and hypertelorism. After a standard approach for tethered cord syndrome, the patient was discharged 3 days after without any additional neurodeficits.

CONCLUSION

In the literature, sacral lipoma and tethered cord syndrome with Sotos syndrome have not been published yet.

摘要

背景

索托斯综合征由基因缺失引起，呈常染色体显性遗传模式。索托斯综合征最早由胡安·索托斯描述。科尔和休斯确定了该综合征的临床特征。该综合征的特点是巨头畸形、额部隆突、眼距增宽、生长过速、硬膜下积液、脑室扩张、胼胝体发育不全。该综合征与核受体SET结构域蛋白1（NSD 1）基因突变、蛋白不足及5q35微缺失有关。据报道，索托斯综合征在大约1/10,000 - 15,000例出生病例中出现。