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Anaesthetic Management of Case With Lowe Syndrome

Year 2005, Volume: 14 Issue: 3, 205 - 208, 01.12.2005

Abstract

Oculocerebrorenal Syndrome of Lowe (OCRL) or Lowe Syndrome (LS), is a rare X chromosome-linked disorder that is characterized by severe mental retardation, congenital cataracts, and Renal Fanconi Syndrome. The Renal Fanconi Syndrome develops in the neonatal period with impaired renal proximal tubular function including acidosis, aminoaciduria, phosphaturia, and proteinuria. Patients with OCRL may also candidate to general anaesthesia by reason of cataract and glaucoma. However musculo-skeletal abnormalities, dental cysts and metabolic acidosis and hypokalemia are the most important aspects and should be noticed preoperative or intraoperatively. In this case report; By monitoring peroperative blood gases and plasma electrolyt levels and being avoided from applications which can influence acidose and affects of acidose, the case mentioned hereby, who has OCRL Syndrome and has entubation difficulties with the need of sodium bicarbonate that has to be given during operation, didn’t show any complication caused by anesthetics and the post operative period could be maintened

References

  • Lowe C, Terrey M, MacLachan E. Organic aciduria, decreased renal ammonia production, hydrophtalmos, and mental retardation: a clinical entity. Am J Dis Child 1952,83:164– 184.
  • Walton DS, Katsavounidou G, Lowe CU. Glaucoma with the oculocerebrorenal syndrome of Lowe. J Glaucoma 2005,14:181– 185.
  • Charnas RL, Nussbaum RL: The oculocerebrorenal of Lowe (Lowe syndrome). In: Beaudet AL, Scriver CR, Sly WS, Valle DL (eds.) The Metabolic and Molecular Bases of Inherited Disease. 7th ed. McGraw-Hill Health Professions Division, New-York 1995, pp 3705– 3716.
  • Peverall J, Edkins E, Goldblatt J, Murch A. Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome. Clin Genet. 2000,58:479–482.
  • Gropman A, Levin S, Yao L et al. Unusual renal features of Lowe syndrome in a mildly affected boy. Am J Med Genet 2000,95:461–466.
  • Kruger SJ, Wilson ME Jr, Hutchinson AK, Peterseim MM, Bartholomew LR, Saunders RA. Cataracts and glaucoma in patients with oculocerebrorenal syndrome. Arch Ophthalmol 2003,121:1234–1237.
  • Saricaoglu F, Demirtas F, Aypar U. Preoperative and perioperative management of a patient with Lowe syndrome diagnosed to have Fanconi's syndrome. Paediatr Anaesth 2004,14:530–532.
  • Harrison M, Odell EW, Sheehy EC. Dental findings in Lowe syndrome. Pediatr Dent 1999, 21:425–428.

LOWE SENDROMLU OLGUDA ANESTEZİK YAKLAŞIM

Year 2005, Volume: 14 Issue: 3, 205 - 208, 01.12.2005

Abstract

Okülo-Serebro-Renal Lowe (OCRL) Sendromu ya da Lowe Sendromu (LS); konjenital katarakt, mental retardasyon ve Renal Fanconi Sendromuyla seyreden, X kromozomuna bağlı, resesif geçişli, nadir görülen bir sendromdur. Renal Fanconi Sendromu proksimal tubulus fonksiyon yetersizliği nedeniyle yenidoğan döneminde asidoz, aminoasitüri, fosfatüri ve proteinüriye neden olur. OCRL Sendromu seyrinde izlenen katarakt ve glokom nedeniyle bu olgular genel anestezi uygulanmasına adaydırlar. Ancak kas iskelet sistemine ait anomaliler, dental kistler ve metabolik problemler nedeniyle anestezi uygulaması öncesi veya anestezi sırasında dikkat edilmelidir. Sunulan; OCRL Sendromu tanılı, entübasyon güçlüğü yaşanan ve operasyon sırasında sodyum bikarbonat verilmesi gereken olguda peroperatif kan gazları ve plazma elektrolit düzeyleri izlenerek asidoz ve asidozun etkilerini artıracak uygulamalardan kaçınıldığında anesteziden kaynaklanabilecek komplikasyonların oluşmadığı postoperatif dönemin sağlanabildiği gözlenmiştir

References

  • Lowe C, Terrey M, MacLachan E. Organic aciduria, decreased renal ammonia production, hydrophtalmos, and mental retardation: a clinical entity. Am J Dis Child 1952,83:164– 184.
  • Walton DS, Katsavounidou G, Lowe CU. Glaucoma with the oculocerebrorenal syndrome of Lowe. J Glaucoma 2005,14:181– 185.
  • Charnas RL, Nussbaum RL: The oculocerebrorenal of Lowe (Lowe syndrome). In: Beaudet AL, Scriver CR, Sly WS, Valle DL (eds.) The Metabolic and Molecular Bases of Inherited Disease. 7th ed. McGraw-Hill Health Professions Division, New-York 1995, pp 3705– 3716.
  • Peverall J, Edkins E, Goldblatt J, Murch A. Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome. Clin Genet. 2000,58:479–482.
  • Gropman A, Levin S, Yao L et al. Unusual renal features of Lowe syndrome in a mildly affected boy. Am J Med Genet 2000,95:461–466.
  • Kruger SJ, Wilson ME Jr, Hutchinson AK, Peterseim MM, Bartholomew LR, Saunders RA. Cataracts and glaucoma in patients with oculocerebrorenal syndrome. Arch Ophthalmol 2003,121:1234–1237.
  • Saricaoglu F, Demirtas F, Aypar U. Preoperative and perioperative management of a patient with Lowe syndrome diagnosed to have Fanconi's syndrome. Paediatr Anaesth 2004,14:530–532.
  • Harrison M, Odell EW, Sheehy EC. Dental findings in Lowe syndrome. Pediatr Dent 1999, 21:425–428.
There are 8 citations in total.

Details

Other ID JA32GN29EM
Journal Section Case Reports
Authors

Berrin Işık This is me

Mustafa Arslan This is me

Mehmet Akçabay This is me

Publication Date December 1, 2005
Submission Date December 1, 2005
Published in Issue Year 2005 Volume: 14 Issue: 3

Cite

APA Işık, B., Arslan, M., & Akçabay, M. (2005). LOWE SENDROMLU OLGUDA ANESTEZİK YAKLAŞIM. Sağlık Bilimleri Dergisi, 14(3), 205-208.
AMA Işık B, Arslan M, Akçabay M. LOWE SENDROMLU OLGUDA ANESTEZİK YAKLAŞIM. JHS. December 2005;14(3):205-208.
Chicago Işık, Berrin, Mustafa Arslan, and Mehmet Akçabay. “LOWE SENDROMLU OLGUDA ANESTEZİK YAKLAŞIM”. Sağlık Bilimleri Dergisi 14, no. 3 (December 2005): 205-8.
EndNote Işık B, Arslan M, Akçabay M (December 1, 2005) LOWE SENDROMLU OLGUDA ANESTEZİK YAKLAŞIM. Sağlık Bilimleri Dergisi 14 3 205–208.
IEEE B. Işık, M. Arslan, and M. Akçabay, “LOWE SENDROMLU OLGUDA ANESTEZİK YAKLAŞIM”, JHS, vol. 14, no. 3, pp. 205–208, 2005.
ISNAD Işık, Berrin et al. “LOWE SENDROMLU OLGUDA ANESTEZİK YAKLAŞIM”. Sağlık Bilimleri Dergisi 14/3 (December 2005), 205-208.
JAMA Işık B, Arslan M, Akçabay M. LOWE SENDROMLU OLGUDA ANESTEZİK YAKLAŞIM. JHS. 2005;14:205–208.
MLA Işık, Berrin et al. “LOWE SENDROMLU OLGUDA ANESTEZİK YAKLAŞIM”. Sağlık Bilimleri Dergisi, vol. 14, no. 3, 2005, pp. 205-8.
Vancouver Işık B, Arslan M, Akçabay M. LOWE SENDROMLU OLGUDA ANESTEZİK YAKLAŞIM. JHS. 2005;14(3):205-8.