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Langer-Giedion syndrome associated with congenital dural arterio-venous fistula.

作者信息

Leu Severina, Valavanis Anton, Baltsavias Gerasimos

机构信息

Department of Neuroradiology, University Hospital of Zurich, Rämistrasse 100, 8091, Zürich, Switzerland,

出版信息

Childs Nerv Syst. 2015 May;31(5):801-4. doi: 10.1007/s00381-014-2570-9. Epub 2014 Oct 8.

DOI:10.1007/s00381-014-2570-9
PMID:25293531
Abstract

Langer-Giedion syndrome (LGS) is a rare disease caused by deletion of chromosome 8q23.3-q24.11. Clinical manifestations include among others multiple exostoses, short stature, intellectual disability, and typical facial dysmorphism. Dural arterio-venous shunts (DAVS) in the pediatric age are rare lesions, which have been classified into three types: dural sinus malformations (DSM), infantile type DAVS (IDAVS), and adult type DAVS (ADAVS). We report a case of a patient with a known LGS who was diagnosed with complex intracranial dural AV fistula at the age of 20. An association between LGS and intracranial dural AV fistulas has to our knowledge never been reported before.

摘要

相似文献

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2
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引用本文的文献

1
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Childs Nerv Syst. 2024 Jan;40(1):197-204. doi: 10.1007/s00381-023-06156-z. Epub 2023 Oct 21.

本文引用的文献

1
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.导致朗格-吉伊登综合征非典型表型的复杂染色体重排：基因型-表型相关性及文献复习。
Am J Med Genet A. 2014 Mar;164A(3):753-9. doi: 10.1002/ajmg.a.36326. Epub 2013 Dec 19.
2
Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.小头-薄胼胝体综合征定位于 8q23.2-q24.12。
Pediatr Neurol. 2012 Jun;46(6):363-8. doi: 10.1016/j.pediatrneurol.2012.03.014.
3
Anatomoclinical Aspects of Dural Arteriovenous Shunts in Children. Review of 29 cases.
儿童硬脑膜动静脉分流的解剖临床学方面。29例病例回顾。
Interv Neuroradiol. 1996 Sep 30;2(3):179-91. doi: 10.1177/159101999600200303. Epub 2001 May 15.
4
Dural Sinus Malformations (DSM) with Giant Lakes, in Neonates and Infants. Review of 30 Consecutive Cases.新生儿和婴儿中伴有巨大湖状结构的硬脑膜窦畸形（DSM）：30例连续病例回顾
Interv Neuroradiol. 2003 Dec 20;9(4):407-24. doi: 10.1177/159101990300900413. Epub 2004 Oct 22.
5
Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.一名患有新发8q24亚微观间质缺失的男孩出现多发性外生骨疣、智力发育迟缓、多毛症和脑异常。
Am J Med Genet. 2002 Dec 15;113(4):326-32. doi: 10.1002/ajmg.10845.
6
The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature.伴有外生骨疣的毛发-鼻-指综合征（或朗格-吉迪恩综合征）：另外4例无智力发育迟缓的患者及文献复习
Am J Med Genet. 1984 Sep;19(1):81-112. doi: 10.1002/ajmg.1320190110.
7
The widened spectrum of multiple cartilaginous exostosis (MCE).
Pediatr Radiol. 1975 Mar 20;3(2):93-100. doi: 10.1007/BF01000121.