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Proteus syndrome with syringohydromyelia and arachnoid cyst.

作者信息

Anik Yonca, Anik Ihsan, Gonullu Erdem, Inan Nagihan, Demirci Ali

机构信息

School of Medicine, Department of Radiology, University of Kocaeli, 41380 Umuttepe, Kocaeli, Turkey.

出版信息

Childs Nerv Syst. 2007 Oct;23(10):1199-202; discussion 1203. doi: 10.1007/s00381-007-0364-z. Epub 2007 Jun 26.

DOI:10.1007/s00381-007-0364-z
PMID:17593376
Abstract

INTRODUCTION

Proteus syndrome (PS) is a rarely seen, sporadic disorder with a wide range of abnormalities including asymmetrical overgrowth, skin lesions, dysregulated adipose tissue, and vascular malformations. Brain and spinal malformations are extremely rare; syringohydromyelia and arachnoid cyst have not been reported previously.

MATERIALS AND METHODS

We present a 5-year-old girl with PS having severe central nervous system (CNS) abnormalities demonstrated by magnetic resonance imaging (MRI) including craniocutaneous lipomatosis, hemimegalencephaly, arachnoid cyst, and syringohydromyelia.

摘要

相似文献

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Proteus syndrome with syringohydromyelia and arachnoid cyst.
Childs Nerv Syst. 2007 Oct;23(10):1199-202; discussion 1203. doi: 10.1007/s00381-007-0364-z. Epub 2007 Jun 26.
2
Nuances in Localization and Surgical Treatment of Syringomyelia Associated with Fenestrated and Webbed Intradural Spinal Arachnoid Cyst: A Retrospective Analysis.伴有开窗和网状硬脊膜内蛛网膜囊肿的脊髓空洞症的定位及外科治疗细微差别：一项回顾性分析
World Neurosurg. 2016 Mar;87:176-86. doi: 10.1016/j.wneu.2015.11.004. Epub 2015 Nov 14.
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Giant anterior arachnoid cyst associated with syringomyelia: implications for treatment and follow-up.巨大的前蛛网膜囊肿伴脊髓空洞症：治疗和随访的意义。
Spine (Phila Pa 1976). 2010 Apr 15;35(8):E322-4. doi: 10.1097/BRS.0b013e3181c8a40a.
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Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: report of two cases.与半侧巨脑畸形和大田原综合征相关的变形综合征：两例报告。
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[Intradural spinal arachnoid cyst associated with Noonan's syndrome].[与努南综合征相关的硬脊膜内脊髓蛛网膜囊肿]
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[Intradural arachnoid cyst associated with syringomyelia: a case report].[硬脊膜内蛛网膜囊肿合并脊髓空洞症：一例报告]
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Proteus syndrome with widespread portwine stain naevus.伴有广泛葡萄酒色斑痣的变形综合征
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Diagnostic Approach to Macrocephaly in Children.儿童巨头症的诊断方法
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本文引用的文献

1
Proteus syndrome: an update.变形综合征：最新进展
Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):38-52. doi: 10.1002/ajmg.c.30063.
2
Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.变形综合征文献的重新评估：将诊断标准应用于已发表病例。
Am J Med Genet A. 2004 Oct 1;130A(2):111-22. doi: 10.1002/ajmg.a.30327.
3
Radiologic manifestations of Proteus syndrome.变形综合征的放射学表现。
Radiographics. 2004 Jul-Aug;24(4):1051-68. doi: 10.1148/rg.244035726.
4
Germline mutation of the tumour suppressor PTEN in Proteus syndrome.普洛提斯综合征中肿瘤抑制基因PTEN的种系突变。
J Med Genet. 2002 Dec;39(12):937-40. doi: 10.1136/jmg.39.12.937.
5
Vasculogenesis, angiogenesis, hemangiomas, and vascular malformations.血管生成、血管新生、血管瘤和血管畸形。
Am J Med Genet. 2002 Apr 1;108(4):265-74. doi: 10.1002/ajmg.10260.
6
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.PTEN肿瘤抑制基因种系突变与变形杆菌综合征及类变形杆菌综合征的关联。
Lancet. 2001 Jul 21;358(9277):210-1. doi: 10.1016/s0140-6736(01)05412-5.
7
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.与半侧肥大、下肢不对称、动静脉畸形和脂肪瘤病的变形杆菌样综合征相关的种系和种系嵌合型PTEN突变。
Hum Mol Genet. 2000 Mar 22;9(5):765-8. doi: 10.1093/hmg/9.5.765.
8
Proteus syndrome: craniofacial and cerebral MRI.
Neuroradiology. 1999 Nov;41(11):840-3. doi: 10.1007/s002340050853.
9
Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.变形综合征：诊断标准、鉴别诊断及患者评估
Am J Med Genet. 1999 Jun 11;84(5):389-95. doi: 10.1002/(sici)1096-8628(19990611)84:5<389::aid-ajmg1>3.0.co;2-o.
10
The Proteus syndrome: CNS manifestations.变形综合征：中枢神经系统表现
AJNR Am J Neuroradiol. 1998 May;19(5):987-90.