Sindrom Silver Russell

LAURA CHRISTANTY, dr. Yudha Patria, Sp. A (K), Ph.D.; dr. Neti Nurani, M.Kes, Sp.A(K)

2018 | Tesis-Spesialis | SP ILMU KESEHATAN ANAK

Seorang anak perempuan berusia 18 bulan dirujuk ke RSUP Dr. Sardjito karena muntah berulang, gagal tumbuh dan perkembangan global tertunda. Dia menunjukkan ciri khas dari Silver-Russell Syndrome yang termasuk perawakan pendek, macrocephaly relatif, fasies segitiga, klinik bilateral dan asimetri anggota badan. Pemeriksaan gen menunjukkan disipasi uniparental ibu dari kromosom 7 yang berkontribusi pada sindrom ini. Perawatan diarahkan untuk meningkatkan kualitas hidup dan keseluruhan prognosisnya baik. Namun, muntah berulang mempengaruhi hasil dan prognosis dari Silver-Russell Syndrome.

A 18-months old girl was referred to RSUP Dr. Sardjito Hospital due to recurrent vomitus, failure to thrive and global developmental delayed. She was revealed the characteristic features of Silver-Russell Syndrome which included short stature, relative macrocephaly, triangular facies, bilateral clinodactyly and asymmetry of limbs. Gene examination revealed maternal uniparental disomy of chromosome 7 which contribute to this syndrome. The treatment was directed to improve the quality of life and the overall prognosis is good. However, recurrent vomiting affect the outcome and prognosis of Silver-Russell Syndrome.

Kata Kunci : Silver-Russell Syndrome, gastro-oesophageal reflux disease, recurrent vomiting, growth retardation