Abstract
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.
References
Abu A, Frydman M, Marek D, Pras E, Stolovitch C, Aviram-Goldring A, Rienstein S, Reznik-Wolf H, Pras E (2006) Mapping of a gene causing brittle cornea syndrome in Tunisian Jews to 16q24. Invest Ophthalmol Vis Sci 47:5283–5287
Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E (2008) Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. Am J Hum Genet 82:1217–1222
Ticho U, Ivry M, Merin S (1980) Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome). Br J Ophtalmol 64:175–177
Cunningham AJ, Barry P (1986) Intraocular pressure-physiology and implications for anesthetic management. Can Anesth Soc J 33:195–208
Dev N, Prakash J, Mathur AG, Maini AK (1986) The effect of intravenous anesthetic agents on scoline induced rise in intraocular pressure. Indian J Ophtalmol 34:195–197
Chambers D, Paulden M, Paton F, Heirs M, Duffy S, Hunter JM, Sculpher M, Woolacott N (2010) Sugammadex for reversal of neuromuscular block after rapid sequence intubation: a systematic review and economic assessment. Br J Anaesth 105:568–575
Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B (2004) 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. Am J Med Genet 124:28–34
Royce PM, Steinman B, Vogel A, Steinhorst U, Kohlschuetter A (1990) Brittle cornea syndrome: an inheritable 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. Eur J Pediatr 149:465–469
Silverstein JH, Timberger M, Reich DL, Uysal S (2007) Central nervous system dysfunction after noncardiac surgery and anesthesia in the elderly. Anesthesiology 106:622–628
Izquierdo L Jr, Mannis MJ, Marsh PB, Yang SP, McCarthy JM (1999) Bilateral spontaneous corneal rupture in brittle cornea syndrome: a case report. Cornea 18:621–624
Smith PS, Wilson RC, Robinson AP, Lyons GR (2003) Regional blockade for delivery in women with scoliosis or previous spinal surgery. Int J Obstet Anesth 12:17–22
Liu SS, Ngeow JE, Yadeau JT (2009) Ultrasound-guided regional anesthesia and analgesia: a qualitative systematic review. Reg Anesth Pain Med 34:47–59
Kuczkowski KM, Benumof JL (2002) Cesarean section and Ehlers–Danlos syndrome: choice of anesthesia. Int J Obstet Anesth 11:222–224
Erez Y, Ezra Y, Rojansky N (2008) Ehlers–Danlos type IV in pregnancy. A case report and a literature review. Fetal Diagn Ther 23:7–9
Kuczkowski KM (2005) Ehlers–Danlos syndrome in the parturient: an uncommon disorder–common dilemma in the delivery room. Arch Gynecol Obstet 273:60–62
Conflict of interest
None.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Ioscovich, A., Grisaru-Granovsky, S., Halpern, S. et al. Peripartum anesthetic management of a patient with brittle cornea syndrome. Arch Gynecol Obstet 283 (Suppl 1), 49–52 (2011). https://doi.org/10.1007/s00404-011-1838-5
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00404-011-1838-5