Defek Septum Atrial Disertai Stenosis Pulmonal, Hipotiroid, Epilepsi, Labiognatopalatoskisis, Dan Global Developmental Delay Pada Sindrom Down

ALEXANDRA WIDITA S.P, dr. Sasmito Nugroho, SpA(K).; Prof. dr. Madarina Julia, MPH., Ph.D., SpA(K).

2017 | Tesis-Spesialis | SP ILMU KESEHATAN ANAK

Latar belakang Sebanyak 15% dari populasi sindrom Down di dunia berasal dari Indonesia. Kelainan multisistem pada sindrom Down dapat meningkatkan hendaya, morbiditas, bahkan mortalitas populasi ini. Obyektif Menggambarkan perjalanan klinis dan pemantauan pada sindrom Down dengan kelainan multisistem. Kasus Seorang anak perempuan yang terdiagnosis sindrom Down disertai labiognatopalatoskisis dipantau sejak usia 18 bulan. Anak memiliki defek septum atrium (ASD) sedang dan stenosis pulmonal (PS) berat, hipotiroid, epilepsi, gangguan pendengaran sensorineural profunda, gizi kurang, dan keterlambatan perkembangan. Saat anak berusia empat tahun, ASD mengecil tanpa intervensi sedangkan PS berkurang dengan valvuloplasti. Kadar tiroid fluktuatif dengan levotiroksin rutin. Anak hanya mengalami bangkitan satu kali di awal pemantauan dan selanjutnya terkontrol dengan menggunakan asam valproat. Permasalahan ekonomi dan psikologis dalam keluarga menyebabkan terkendalanya fisioterapi dan terapi wicara. Oleh karena itu, meskipun pendengaran telinga kiri membaik, kondisi keterlambatan perkembangan tidak dapat mencapai milestones yang diharapkan. Keterbatasan dalam variasi makanan yang dikonsumsi secara oral maupun enteral, adanya kelainan jantung dan hipotiroid berkontribusi terhadap penurunan berat badan terhadap umur meskipun tinggi dan lingkar kepala dalam batas normal. Stimulasi yang diperoleh belum cukup untuk mengejar ketertinggalan milestones perkembangan.

Background Approximately 15% of Down syndrome population came from Indonesia. These multisystem anomalies may increase disability, morbidity, and even mortality of this population. Objective To describe the clinical progression and monitoring in Down syndrome with multiple anomalies. Case A girl previously diagnosed with Down syndrome and labiognatopalatoschisis was monitored since she was 18 months old. She had moderate atrial septal defect (ASD) and severe pulmonary stenosis (PS), hypothyroidism, epilepsy, profound sensorineural hearing loss, mild protein energy malnutrition, and global developmental delay. At four years old, the ASD shrunk without intervention while the PS was reduced by valvuloplasty. The thyroid hormone level fluctuated while consuming levothyroxine routinely. She had seizure once in the early monitoring period and stabilized later with valproic acid. Economical and psychological problems within the family delayed the physical and speech therapy. Although the improvement of the left ear hearing loss, the stimulation was inadequately received. Hence the development could not reach the expected milestones. Limitation of both oral and enteral food variation, congenital heart disease, and hypothyroidism contributed to the attenuation of weight for age despite the normal height and head circumference.

Kata Kunci : sindrom Down, defek septum atrium, stenosis pulmonal, epilepsi, hipotiroid, Down syndrome, atrial septal defect, pulmonary stenosis, epilepsy, hypothyroidism