ESPE Abstracts

Introduction: Hypothyroidism is the commonest endocrine disorder which associates with Trisomy 21. It affects the physical and intellectual development of children. It can be either congenital or acquired.

Case report: 9 years old boy diagnosed patient with Trisomy 21; presented with the complaint of bowel not opened for 3 weeks and grossly distended abdomen. On the day of admission, he had low-grade fever and settled within 24 hours. He didn’t have any systemic symptoms of hypothyroidism and cardiac symptoms other than the distended abdomen and constipation, He was the 4th born child to non-consanguineous parents. Term baby delivered by an emergency cesarian section due to maternal Pregnancy induced hypertension. Birth weight was 1.5Kg. He had Duodenal Obstruction due to annular pancreas and undergone Duodenoduodenostomy on day 4 of life. He had restricted PDA without Pulmonary Hypertension. At birth, his TSH was normal. He is having speech and intellectual development delay. Development age compatible with 4 years. TSH was normal until 4 years of age. Defaulted follow-up afterward. On examination, he had typical features of Trisomy 21 and short stature (< 5th Centile), mild pallor and coarse skin. No respiratory distress. CVS, Respiratory system and CNS examinations were normal. Abdominal examination was normal except the distended abdomen. Investigations showed mild anaemia. Serum free T4 0.1ng/dl and TSH >100micIU/ml. Liver functions were deranged. Renal functions normal. USS Neck, small sized Thyroid gland. USS abdomen normal. 2D ECHO showed moderate size circumferential pericardial effusion without cardiac tamponade. Due to the acute presentation, he has undergone Anal stretch and Rectal biopsy. Histology showed ganglion cells. He was started on High dose Thyroxin 100 micg/day. Pericardiocentesis done. Sterile pericardial fluid.

Discussion: Our patient had most of the complications related to uncontrolled/untreated hypothyroidism. He had severe constipation which need surgical management, delay in speech and intellectual development, short stature and asymptomatic pericardial effusion. Early recognition and treatment with thyroid hormone replacement and prevent the need for unnecessary invasive procedures and treatment and complications Periodic follow-up with Thyroid function test is essential for a better outcome of a child with Trisomy 21.