Cat eye sendromu: olgu sunumu

Cat eye sendromu doğumda bulgu verebilen nadir bir kromozom anomalisidir. Karyotip analizinde trizomi 22 saptanır. Bulgular ve semptomların ağırlığı ve yaygınlığı aynı aile içinde bile çok değişkendir. Çoğu olguda da hastalığın karakteristik bulguları hafif gelişme geriliği, hafif mental retardasyon ve yüz ve kafada, kalp, böbrekler ve/veya anal bölgede malformasyonları içerir. Daha özgül olarak cat eye sendromlu olgularda kolobom, aşağı yerleşimli palpebral fissürler, hipertelorizm ve/veya okuler defektler, kulak şekil bozuklukları ve preaurikular papillom görülebilir.6 aylık kız hasta, bilateral papillom, atipik yüz görünümü, kardiyovasküler anomaliler ve anal atrezisi olması ve karyotip analizinde trizomi 22 tespit edilmesi ve Cat Eye Sendromunun majör ve minör bulgularına sahip olması nedeniyle sunulmuştur.

Cat eye syndrome: case report

Cat eye syndrome is a rare chromosomal disorder that may be evident at birth. Karyotype analysis reveals trisomy 22. Associated symptoms and findings may vary greatly in range and severity, including those among affected members of the same family. In many cases, characteristic features of the disorder include mild intrauterine growth retardation; mild mental deficiency; and craniofacial, cardiac, renal, and anal malformations. Specifically, individuals with cat eye syndrome frequently have colobomas, downslanting palpebral fissures, hypertelorism, and/or other ocular defects, misshapen ears, and preauricular tags. We report a 6-month-old female patient with major and minor findings of cat eye syndrome, including bilateral skin tags, atypical facial appearance, cardiovascular abnormalities, and anal atresia.

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1. Schachenmann G, Schmid W, Fraccaro M ve ark. Chromosomes in coloboma and anal atresia. Lancet. 1965; 19: 290.
2. Schinzel A, Schmid W, Fraccaro M ve ark. The “cat eye syndrome”: dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.Hum Genet. 1981; 57(2): 148-58.
3. Haab O. Albrecht v Graefes. Arch Ophthal 1879; 24: 257.
4. Freedom RM, Gerald PS. Congenital cardiac disease and the “cat eye” syndrome. Am J Dis Child. 1973; 126: 16-8.
5. Rosias PR, Sijstermans JM, Theunissen PM ve ark. Phenotypic variability of the cat eye syndrome. Case report and review of the literature. Genet Couns. 2001; 12: 273-82.
6. McDermid HE, McTaggart KE, Riazi MA ve ark. Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region. Genome Res. 1996; 6: 1149-59.
7. Mears AJ, el-Shanti H, Murray JC, McDermid HE, Patil SR. Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. Am J Hum Genet. 1995; 57: 667-73.
8. Gentile M, De Sanctis S, Cariola F ve ark. FISH approach to determine cat eye syndrome chromosome breakpoints of a patient with cat eye syndrome type II. Eur J Med Genet 2005; 48: 33-9.