Peripartum anesthetic management of a patient with brittle cornea syndrome

被引：1
作者：
Ioscovich A. [1 ]
Grisaru-Granovsky S. [2 ]
Halpern S. [3 ]
Shapiro Y. [1 ]
机构：
[1] Department of Anesthesiology, Perioperative Medicine and Pain Treatment, Shaare Zedek Medical Centre, Hebrew University, 91031 Jerusalem
[2] Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Hebrew University, Jerusalem
[3] Department of Anesthesiology, Sunnybrook Health Sciences Center, University of Toronto, Toronto, ON
来源：
Archives of Gynecology and Obstetrics | 2011年 / 283卷 / Suppl 1期
关键词：
Anesthesia; Brittle cornea syndrome; Obstetric;
D O I：
10.1007/s00404-011-1838-5
中图分类号：
学科分类号：
摘要：
Brittle cornea syndrome (BCS) is a rare autosomol recessive disease that affects the connective tissue. The syndrome is caused by genetic changes in the 4.7-Mb interval between the D16S3423 and D16S3425 markers on the 16q24 chromosome and mutations in the Zinc-Finger 469 gene (ZNF469). BCS is characterized by thin and fragile cornea that tends to perforate spontaneously or as a result of minor trauma to the eye. In addition, the patient usually suffers from hearing loss, mental retardation, hyperextensibility of skin and joints, as well as varying degrees of scoliosis. This phenotypical expression presents an interesting challenge to anesthetic care. We briefly present the perioperative management of a patient with BCS who underwent three cesarean sections. © 2011 Springer-Verlag.
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页码：S49 / S52
页数：3
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共 15 条
  • [1] Abu A., Frydman M., Marek D., Pras E., Stolovitch C., Aviram-Goldring A., Rienstein S., Reznik-Wolf H., Pras E., Mapping of a gene causing brittle cornea syndrome in Tunisian Jews to 16q24, Investigative Ophthalmology and Visual Science, 47, 12, pp. 5283-5287, (2006)
  • [2] Abu A., Frydman M., Marek D., Pras E., Nir U., Reznik-Wolf H., Pras E., Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome, Am J Hum Genet, 82, pp. 1217-1222, (2008)
  • [3] Ticho U., Ivry M., Merin S., Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome), British Journal of Ophthalmology, 64, 3, pp. 175-177, (1980)
  • [4] Cunningham A.J., Barry P., Intraocular pressure-physiology and implications for anaesthetic management, Canadian Anaesthetists Society Journal, 33, 2, pp. 195-208, (1986)
  • [5] Dev N., Prakash J., Mathur A.G., Maini A.K., The effect of intravenous anesthetic agents on scoline induced rise in intraocular pressure, Indian J Ophtalmol, 34, pp. 195-197, (1986)
  • [6] Chambers D., Paulden M., Paton F., Heirs M., Duffy S., Hunter J.M., Sculpher M., Woolacott N., Sugammadex for reversal of neuromuscular block after rapid sequence intubation: A systematic review and economic assessment, Br J Anaesth, 105, pp. 568-575, (2010)
  • [7] Al-Hussain H., Zeisberger S.M., Huber P.R., Giunta C., Steinmann B., Brittle Cornea Syndrome and Its Delineation from the Kyphoscoliotic Type of Ehlers-Danlos Syndrome (EDS VI): Report on 23 Patients and Review of the Literature, American Journal of Medical Genetics, 124 A, 1, pp. 28-34, (2004)
  • [8] Royce P.M., Steinmann B., Vogel A., Steinhorst U., Kohlschuetter A., Brittle cornea syndrome: An heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation, European Journal of Pediatrics, 149, 7, pp. 465-469, (1990)
  • [9] Silverstein J.H., Timberger M., Reich D.L., Uysal S., Central nervous system dysfunction after noncardiac surgery and anesthesia in the elderly, Anesthesiology, 106, 3, pp. 622-628, (2007)
  • [10] Izquierdo Jr. L., Mannis M.J., Marsh P.B., Yang S.P., McCarthy J.M., Bilateral spontaneous corneal rupture in brittle cornea syndrome: A case report, Cornea, 18, 5, pp. 621-624, (1999)
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