Ahmet SERT, Özgür PİRGON, Mehmet Emre ATABEK, Mustafa DOĞAN

The association of common atrium and smith-lemli-opitz syndrome in an infant

Smith-Lemli-Opitz sendromu düşük plazma kolesterol düzeylerinin eşlik ettiği çoklu doğumsal anomali/mental gerilik ile kendini gösteren nadir bir sendromdur. Klinik spektrum holoprozonsefali ya da letal malformasyonlarla prenatal ölümden normal zeka ya da hafif zihinsel bozukluk ve hafif fiziksel anormalliği olan hastalara kadar değişmektedir. Doğumsal kalp hastalığı Smith-Lemli-Opitz sendromlu hastaların yarısında bulunmaktadır. Bilgilerimize göre, Smith-Lemli-Opitz sendromu ve ortak atrium birlikteliği tıp literatüründe daha önceden açıklanmamıştır. Böyle birlikteliğin olduğu 4 aylık infant olguyu sunuyoruz.

Bir infantta smith-lemli-opitz sendromu ve ortak atrium birlikteliği

Smith-Lemli-Opitz syndrome is a rare syndrome presenting with multiple congenital anomalies/mental retardation associated with low plasma cholesterol levels. The spectrum of severity extends from prenatal death with holoprosencephaly or other lethal malformations, to patients with minimal physical abnormalities and normal intelligence or minimal intellectual impairment. Congenital heart defect is found in half of the Smith-Lemli-Opitz syndrome patients. To our knowledge, the association of common atrium and Smith-Lemli-Opitz syndrome has not been described before in the medical literature. We present a 4-month-old infant case of such association.

PDF

___

1) Smith DW, Lemli L, Opitz JM. A newly recognized syndrome of multiple congenital anomalies. J Pediatr 1964; 64:210-217.
2) Tint GS, Irons M, Elias ER, et al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 1994; 330:107-113.
3) Kelley RI, Herman GE. Inborn errors of sterol biosynthesis. Annu Rev Genom Hum Genet 2001; 2:299–341.
4) Nowaczyk MJ, McCaughey D, Whelan DT, Porter FD. Incidence of Smith–Lemli–Opitz syndrome in Ontario, Canada. Am J Med Genet 2001; 102:18–20.
5) Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet 1997; 68:263-269.
6) Tint GS, Irons M, Elias ER, et al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 1994; 330:107-113.
7) Sajeev CG, Roy TN, Venugopal K. Images in cardiology: Common atrium in a child with Ellis-Van Creveld syndrome. Heart 2002; 88:142.
8) Opitz JM, Gilbert-Barness E, Ackerman J, Lowichik A. Cholesterol and development: The RSH (”Smith-Lemli-Opitz”) syndrome and related conditions. Pediatr Pathol Mole Med 2002; 21:153-181.
9) Irons M, Elias ER, Abuelo D, et al Treatment of Smith–Lemli–Opitz syndrome: results of a multicenter trial. Am J Med Genet 1997; 68:311–314.
10) Nwokoro NA, Mulvihill JJ. Cholesterol and bile acid replacement therapy in children and adults with Smith–Lemli–Opitz (SLO/RSH) syndrome. Am J Med Genet 1997; 68:315–321.
11) Jira P, Wevers R, de Jong J, Rubio-Gozalbo E, Smeitink J. New treatment strategy for Smith–Lemli–Opitz syndrome. Lancet 1997; 349:1222.