前庭水管拡大症
WordNet
- become larger or bigger
- make larger; "She enlarged the flower beds"
- a conduit that resembles a bridge but carries water over a valley
- relating to the sense of equilibrium
- larger than normal; "enlarged joints"
PrepTutorEJDIC
- …‘を'『大きくする』,拡大する / 大きくなる,広がる,ふえる
- 送水路,水路橋
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/01/07 12:54:45」(JST)
[Wiki en表示]
| Enlarged vestibular aqueduct |
| Classification and external resources |
| OMIM |
600791 |
Interior of right osseous labyrinth
Large vestibular aqueduct, also known as enlarged vestibular aqueduct syndrome, is a syndromic form of hearing loss, caused by enlargement of the vestibular aqueduct in the inner ear. It is one of the most common inner ear deformities which results in hearing loss during childhood.[1]
Contents
- 1 Symptoms
- 2 Pathology
- 3 References
- 4 External links
Symptoms
Although large vestibular aqueduct syndrome is a congenital condition, hearing loss may not be present from birth. Age of diagnosis ranges from infancy to adulthood, and symptoms include fluctuating and sometimes progressive sensorineural hearing loss and disequilibrium.[2]
Pathology
The vestibular aqueduct acts as a canal between the inner ear and the cranial cavity. Running through it is a tube called the endolymphatic duct, which normally carries a fluid called endolymph from the inner ear to the endolymphatic sac in the cranial cavity. When the endolymphatic duct and sac are larger than normal, as is the case in large vestibular aqueduct syndrome, endolymph is allowed to travel back from the endolymphatic sac into the inner ear. This often results from abnormal or delayed development of the inner ear during childhood. Enlarged vestibular aqueduct syndrome is often comorbid with other inner ear development problems, such as cochlear deformities. Studies show that genetic defects such as Pendred syndrome are related to large vestibular aqueduct syndrome, and have connected the disorder specifically to a defect on chromosome 7q31.[1]
Hearing loss caused by large vestibular aqueduct syndrome is not inevitable, although people with the syndrome are at a much higher risk of developing hearing loss than the general population. Hearing loss is very likely.
The cochlea and vestibule, viewed from above. (Aqueductus vestibuli labeled at bottom right
References
- ^ a b S. Usami, Satoko Abe, Mike D. Weston, Hideichi Shinkawa, Guy Van Camp and William J. Kimberling (1999), "Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations", Human Genetics 103: 188–192, doi:10.1007/s004390050933, PMID 10190331
- ^ Madden, Colm; Halsted, Mark; Benton, Corning; Greinwald, John; Choo, Daniel (July 2003), "Enlarged Vestibular Aqueduct Syndrome in the Pediatric Population", Otology & Neurotology 24: 625–632
External links
UpToDate Contents
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English Journal
- Mutational analysis of the SLC26A4 gene in Chinese sporadic nonsyndromic hearing-impaired children.
- Hu X, Liang F, Zhao M, Gong A, Berry ER, Shi Y, Wang Y, Chen Y, Liu A, Qu C.SourceChina Rehabilitation and Research Center for Deaf Children, Beijing 100029, People's Republic of China.
- International journal of pediatric otorhinolaryngology.Int J Pediatr Otorhinolaryngol.2012 Oct;76(10):1474-80. doi: 10.1016/j.ijporl.2012.06.027. Epub 2012 Jul 15.
- OBJECTIVE: To investigate the mutations of SLC26A4 gene and the relevant phenotype in Chinese sporadic nonsyndromic hearing-impaired children.METHODS: 195 Chinese sporadic nonsyndromic hearing-impaired children were subjected to microarray-based mutation detection for 9 hot spot mutations in four of
- PMID 22796198
- Clinical use of vestibular evoked myogenic potentials in the evaluation of patients with air-bone gaps.
- Zhou G, Poe D, Gopen Q.Source*Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital; †Department of Otology and Laryngology, Harvard Medical School, Boston, Massachusetts; and ‡Department of Otolaryngology, Head and Neck Surgery, UCLA Medical Center, Los Angeles, California, U.S.A.
- Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.Otol Neurotol.2012 Oct;33(8):1368-74.
- OBJECTIVE: To determine the value of vestibular evoked myogenic potential (VEMP) test in clinical evaluation of air-bone gaps.STUDY DESIGN: Retrospective case review.SETTING: Tertiary referral center.PATIENTS: A total of 120 patients underwent VEMP testing during clinical investigation of significan
- PMID 22975905
Japanese Journal
- 枝松 秀雄,安田 真美子,佐々木 優子 [他],小林 真由美,瀬戸 由記子,末次 敏成,井田 裕太郎
- 耳鼻咽喉科臨床 補冊 143(0), 24-28, 2015
- … We fortunately had the chance to review the original copy of the paper.The summary of Mondini's report described several conditions: there was a large opening of the vestibular aqueduct; … labyrinth fluid was escaping from the enlarged vestibular aqueduct; …
- NAID 130005084974
- SLC26A4 p.Thr410Met homozygous mutation in a patient with a cystic cochlea and an enlarged vestibular aqueduct showing characteristic features of incomplete partition type I and II.
- Yamazaki Hiroshi,Naito Yasushi,Moroto Saburo,Tamaya Rinko,Yamazaki Tomoko,Fujiwara Keizo,Ito Juichi
- International journal of pediatric otorhinolaryngology 78(12), 2322-2326, 2014-12
- … Mutations of SLC26A4 are associated with incomplete partition type II (IP-II) and isolated enlargement of the vestibular aqueduct (EVA). …
- NAID 120005537592
- Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese : a large cohort study
- Miyagawa Maiko,Nishio Shin-ya,Usami Shin-ichi [他]
- Journal of human genetics 59(5), 262-268, 2014-05
- NAID 40020066511
Related Links
- What is an enlarged vestibular aqueduct? The vestibular aqueduct is a tiny, bony canal that extends from the inner ear endolymphatic space toward the brain. It is shielded by one of the densest bones in the body, the temporal bone ...
- Images of the right temporal bone of someone with EVA Left: MRI scan showing enlargement of the endolymphatic sac and duct (indicated by the arrow). Right: CT scan showing enlargement of the vestibular aqueduct
★リンクテーブル★
[★]
- 英
- enlarged vestibular aqueduct enlarged vestibular aqueduct syndrome, large vestibular aqueduct LVA, large vestibular aqueduct syndrome
- 関
- ペンドレッド症候群
[show details]
疫学
病因
- 先天的・後天的に発症(E1)
- 先天性が一般的。内耳の発生異常である。前庭水管の発生異常。妊娠15週。(E1)
- SLC26A4(PDS)遺伝子の変異が原因(SOTO.170) → 前庭水管拡大を伴った非症候性難聴とPendred症候群は一連の症候群である可能性が高い(SOTO.170)
症状
- 幼少期から感音性難聴。ときにめまいを伴う。難聴は進行性、変動することがある。発症の契機はは頭部外傷。(SOTO.170)
診断・検査
- 側頭骨のCT(E1)。CTかMRI(SOTO.170)
- 画像所見(E1)：通常の水管径1mm以下なのに本症では1.5-2mm異常に拡大。(SOTO.170)
治療
[★]
- 関
- augment、augmentation、dilatation、dilate、dilated、dilation、distend、enlargement、escalate、escalation、expand、expansion、extend、extension、increase、increment、magnify
[★]
- 関
- vestibule、vestibulo
[★]
水管、水道