Sindrom Rubinstein Taybi dengan Hipertensi Pulmonal

RISKI KAWA RAMADHANI, dr. Retno Sutomo, PhD, SpA(K); dr. S. Yudha Patria, PhD, SpA(K)

2016 | Tesis-Spesialis | SP ILMU KESEHATAN ANAK

Latar belakang: Sindrom Rubinstein Taybi (RTS) merupakan kasus jarang yang memiliki beragam manifestasi klinis sehingga memerlukan deteksi dan tatalaksana khusus agar tumbuh kembang dapat optimal. Dilaporkan sebuah kasus anak perempuan usia 5 tahun terdiagnosis RTS sejak Desember 2012. Diagnosis ditegakkan berdasarkan wajah dismorfik, gizi buruk, jari kaki lebar, dan disabilitas intelektual. Anak memiliki VSD dan PDA besar dengan hipertensi pulmonal berat. Metode: Pengamatan observasional dilakukan sejak Februari 2014 hingga Mei 2015 berdasarkan tatalaksana medis khusus RTS. Variabel yang diamati adalah status nutrisi, pertumbuhan, perkembangan, imunisasi, kelainan kardiovaskular, neurologis, tulang, respirasi, gastrointestinal, mata, hemato-onkologi, gigi, pendengaran, kulit, endokrin, genitourinaria, kepatuhan minum obat, kondisi rumah, dan kualitas hidup. Hasil: Hasil pemantauan selama pemantauan 15 bulan adalah sebagai berikut. Target yang tercapai adalah: perkembangan anak tidak mengalami penurunan fungsional, disabilitas intelektual sedang menjadi ringan, dideteksi adanya tuli sensorineural berat telinga kanan dan kiri, dideteksi adanya skar hipertrofi pasca-operasi, imunisasi dasar terlaksana, anak patuh meminum obat dan tidak didapatkan efek samping obat, serta tidak didapatkan kelainan neurologis, ortopedik, infeksi saluran nafas berat, gastrointestinal, mata, hemato-onkologi, endokrin, dan genitourinaria. Target tidak tercapai adalah: hipertensi pulmonal menetap meski dengan pengobatan dan penutupan defek, terjadi komplikasi AV blok total pasca-operasi, gizi buruk menetap, skor rumah sehat meningkat meski masih tergolong rumah tidak sehat, dan pasien pada akhirnya meninggal setelah 4 bulan pasca-operasi. Simpulan: Pengelolaan anak dengan RTS memerlukan pendekatan holistik, komprehensif, dan berkelanjutan sehingga tercapai tumbuh kembang optimal, dan kualitas hidup yang baik

Background: Rubinstein Taybi Syndrome (RTS) is a rare case that has a variety of clinical manifestations that require specialized detection and management of that growth and development can be optimized. We Reported a case of 5-year old girl diagnosed with RTS since December 2012. Diagnosis was based on facial dysmorphic, malnutrition, broad hallux, and intellectual disability. This child also had a large VSD and PDA with severe pulmonary hypertension. Methods: Observations was conducted from February 2014 to May 2015 based on medical guideline for RTS. The variables measured were nutritional status, growth and development, immunization, cardiovascular, neurological, orthopedic, respiratory, gastrointestinal, eye, hemato-oncology, dental, hearing, skin, endocrine, and genitourinary disorders, also medication adherence, housing conditions, and quality of life. Results: Target achieved were: development of child did not worsening, intellectual disability was improved from moderate to mild, detected severe sensorineural hearing loss both right and left ears, detected post-surgery hypertrophic scar, basic immunization was carried out, the child dutifully taking drugs and there was no drugs side effects, and there were no neurological, orthopedic, respiratory tract, gastrointestinal, eye, hemato-oncology, endocrine, and genitourinary problems. Target not achieved were: pulmonary hypertension was persisted despite adequate treatments and closure of the defects, there was total AV block as a post-surgery complication, malnutrition was persisted, housing condition was still classified not healthy. Patient died after 15 months of monitoring. Conclusions: Management of child with RTS requires holistic approach, comprehensive, and should be sustained to achieve optimal growth and development, also good quality of life.

Kata Kunci : Sindrom Rubinstein Taybi, jari tangan lebar, hipertensi pulmona