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Smith-Lemli-Opitz Sendromu SLOS : Prenatal ve Postnatal Dönemde Tanısı

Year 2009, Volume: 9 Issue: 3, 147 - 152, 01.07.2009

Abstract

Smith-Lemli-Opitz Sendromu SLOS , kolesterol biyosentezindeki bir enzim eksikliğinin multipl konjenital anomalilere ve mental retardasyona yol açtığı otozomal resesif geçişli doğumsal bir metabolizma hastalığıdır. Bu çalışmada kolesterol biyosentez hastalıklarından biri olan SLOS kesin tanılı iki vakanın klinik bulguları sunulmuştur. Nedeni belirlenemeyen hafif-orta mental retardasyon ve dismorfizmi ola hastalarda, basit bir laboratuvar testi olan serum kolesterol düzeyinin düşük ya da normalin alt sınırında olması ve 7-dehidrokolesterol düzeyinde artış saptanması ile bu sendromun kesin tanısının konulabileceği vurgulanmaktadır. Taşıyıcı sıklığı ile karşılaştırıldığında kesin tanı konulan hastaların az olduğu bu sendromun tanı konma yüzdesinin arttırılabileceğini ve son yıllarda önem kazanan otistik bulguları olan hafif mental retardasyonlu SLOS vakalarının da hekimler tarafından tanınması amaçlanmaktadır.

References

  • Smith DW, Lemli L, Opitz, JM. A newly recognized syndro- me of multiple congenital anomalies. Pediat 1964; 64:210-7.
  • Elias ER and Irons M. Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. Curr Opin Pediatr 1995; :710-4.
  • Paik YK, Glossmann H. Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndro- me. Proc Natl Acad Sci USA 1998; 95:8181-6.
  • LM, Connor WE. Mutations in the human sterol delta7- reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndro- me. Am J Hum Genet 1998; 63:55-62.
  • Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L. Smith-Lemli-Opitz syndrome is caused by mutations in the 7- dehydrocholesterol reductase gene. Am J Hum Genet 1998; 63:329-38.
  • Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr ; 127:82-7. Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. Hum Mol Genet 2000; 9:1385-91.
  • Rapid identification of Smith-Lemli-Opitz syndrome homozy- gotes and heterozygotes (carriers) by measurement of defici- ent 7-dehydrocholesterol-delta 7-reductase activity in fibrob- lasts. Metabolism 1997; 46:844-50. effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet 1997; :305-10.
  • Opitz syndrome: results of a multicenter trial. Am J Med Genet 1997; 68:311-4. mentation objectively reduces photosensitivity in the Smith
  • Lemli-Opitz syndrome Br J Dermatol 2001; 144(1):143-5.
  • Starck L, Lövgren-Sandblom A, Björkhem I. Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol-synthesis defect Smith- Lemli-Opitz syndrome J Intern Med 2002; 252(4):314-21.
  • Jones KL. Smith’s Recognizable Patterns of Human Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the Head and Neck. Oxford: Oxford University Press, 2001.
  • Yu H, Patel SB. Recent insights into the Smith-Lemli-Opitz syndrome. Clin Genet 2005; 68(5):383-91. Review. Erratum in: Clin Genet 2005; 68(6):570. estriol and other maternal serum markers in pregnancies with
  • Smith-Lemli Opitz (RSH) syndrome fetuses. Am J Med Genet ; 12:82(4):355-8. JE. Assigning risk for Smith-Lemli-Opitz syndrome as part of nd trimester screening for Down’s syndrome. J Med Screen ; 9(1):43-4.

Smith-Lemli-Opitz Syndrome SLOS : Prenatal and Postnatal Diagnosis

Year 2009, Volume: 9 Issue: 3, 147 - 152, 01.07.2009

Abstract

Smith-Lemli-Opitz Sendromu SLOS , is an autosomal recessive metabolic disease, caused by the deficiency of an enzyme in cholestrol biosynthesis, that has multiple congenital anomalies and mental retardation as clinical findings. Clinical findings of two patients with SLOS are discussed in this paper. Our aim is to underline the fact that a simple investigation such as serum cholestrol level being low or at the low levels of normal range that prompts the evaluation of 7- dehydrocholesterol levels, can lead to a definite diagnosis in patients with unexplained mild to moderate mental retardation, multiple congenital anomalies and facial dysmorphism. This approach will help the physicians diagnose more SLOS patients, who are being misdiagnosed or have no diagnosis at all. It will also enable more subtle cases, those with mild psychosocial motor retardation and autism, to be diagnosed.

References

  • Smith DW, Lemli L, Opitz, JM. A newly recognized syndro- me of multiple congenital anomalies. Pediat 1964; 64:210-7.
  • Elias ER and Irons M. Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. Curr Opin Pediatr 1995; :710-4.
  • Paik YK, Glossmann H. Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndro- me. Proc Natl Acad Sci USA 1998; 95:8181-6.
  • LM, Connor WE. Mutations in the human sterol delta7- reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndro- me. Am J Hum Genet 1998; 63:55-62.
  • Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L. Smith-Lemli-Opitz syndrome is caused by mutations in the 7- dehydrocholesterol reductase gene. Am J Hum Genet 1998; 63:329-38.
  • Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr ; 127:82-7. Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. Hum Mol Genet 2000; 9:1385-91.
  • Rapid identification of Smith-Lemli-Opitz syndrome homozy- gotes and heterozygotes (carriers) by measurement of defici- ent 7-dehydrocholesterol-delta 7-reductase activity in fibrob- lasts. Metabolism 1997; 46:844-50. effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet 1997; :305-10.
  • Opitz syndrome: results of a multicenter trial. Am J Med Genet 1997; 68:311-4. mentation objectively reduces photosensitivity in the Smith
  • Lemli-Opitz syndrome Br J Dermatol 2001; 144(1):143-5.
  • Starck L, Lövgren-Sandblom A, Björkhem I. Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol-synthesis defect Smith- Lemli-Opitz syndrome J Intern Med 2002; 252(4):314-21.
  • Jones KL. Smith’s Recognizable Patterns of Human Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the Head and Neck. Oxford: Oxford University Press, 2001.
  • Yu H, Patel SB. Recent insights into the Smith-Lemli-Opitz syndrome. Clin Genet 2005; 68(5):383-91. Review. Erratum in: Clin Genet 2005; 68(6):570. estriol and other maternal serum markers in pregnancies with
  • Smith-Lemli Opitz (RSH) syndrome fetuses. Am J Med Genet ; 12:82(4):355-8. JE. Assigning risk for Smith-Lemli-Opitz syndrome as part of nd trimester screening for Down’s syndrome. J Med Screen ; 9(1):43-4.
There are 13 citations in total.

Details

Primary Language Turkish
Journal Section Research Articles
Authors

Ayça Dilruba Aslanger This is me

R Özgür Rosti This is me

Hülya Kayserili This is me

Publication Date July 1, 2009
Published in Issue Year 2009 Volume: 9 Issue: 3

Cite

APA Dilruba Aslanger, A., Rosti, R. Ö., & Kayserili, H. (2009). Smith-Lemli-Opitz Sendromu SLOS : Prenatal ve Postnatal Dönemde Tanısı. Çocuk Dergisi, 9(3), 147-152.
AMA Dilruba Aslanger A, Rosti RÖ, Kayserili H. Smith-Lemli-Opitz Sendromu SLOS : Prenatal ve Postnatal Dönemde Tanısı. Çocuk Dergisi. July 2009;9(3):147-152.
Chicago Dilruba Aslanger, Ayça, R Özgür Rosti, and Hülya Kayserili. “Smith-Lemli-Opitz Sendromu SLOS : Prenatal Ve Postnatal Dönemde Tanısı”. Çocuk Dergisi 9, no. 3 (July 2009): 147-52.
EndNote Dilruba Aslanger A, Rosti RÖ, Kayserili H (July 1, 2009) Smith-Lemli-Opitz Sendromu SLOS : Prenatal ve Postnatal Dönemde Tanısı. Çocuk Dergisi 9 3 147–152.
IEEE A. Dilruba Aslanger, R. Ö. Rosti, and H. Kayserili, “Smith-Lemli-Opitz Sendromu SLOS : Prenatal ve Postnatal Dönemde Tanısı”, Çocuk Dergisi, vol. 9, no. 3, pp. 147–152, 2009.
ISNAD Dilruba Aslanger, Ayça et al. “Smith-Lemli-Opitz Sendromu SLOS : Prenatal Ve Postnatal Dönemde Tanısı”. Çocuk Dergisi 9/3 (July 2009), 147-152.
JAMA Dilruba Aslanger A, Rosti RÖ, Kayserili H. Smith-Lemli-Opitz Sendromu SLOS : Prenatal ve Postnatal Dönemde Tanısı. Çocuk Dergisi. 2009;9:147–152.
MLA Dilruba Aslanger, Ayça et al. “Smith-Lemli-Opitz Sendromu SLOS : Prenatal Ve Postnatal Dönemde Tanısı”. Çocuk Dergisi, vol. 9, no. 3, 2009, pp. 147-52.
Vancouver Dilruba Aslanger A, Rosti RÖ, Kayserili H. Smith-Lemli-Opitz Sendromu SLOS : Prenatal ve Postnatal Dönemde Tanısı. Çocuk Dergisi. 2009;9(3):147-52.