hrp0095p2-298 | Thyroid | ESPE2022

Complicated Hypothyroidism in a Child with Trisomy 21

Withana Anuruddhika , De Silva Dimarsha , Liyanage Upeksha

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 wit...

hrp0095p2-33 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Maternal Vitamin D deficiency leading to Rickets, Cardiomegaly and Unusual Metabolic Acidosis in a Term Infant: A Case Report

Warnasuriya Dhanushika , Liyanage Upeksha , Wickramarathne Isuru , Gunathilaka Ganganath , Kariyawasam Prathibha , Suntheresan Jananie

Introduction: We describe a 4 month old term infant of a vitamin D deficient mother who presented with bronchopneumonia and cardiomegaly needed respiratory support. Despite resolution of bronchopneumonia he had persistent normal anion gap metabolic acidosis. In the process of investigating into symptomatic hypocalcaemia revealed rickets with 25-hydroxy-vitamin D (Vit D) deficiency and high parathyroid hormone (PTH) which led to distal renal tubular acidosis. B...

hrp0095p2-302 | Late Breaking | ESPE2022

Pseudohypoparathyroidism- Presented with a convulsion

Withana Anuruddhika , Wickramasinghe Rohan , Kumara Milinda , De Silva Dimarsha , Liyanage Upeksha , Palliyaguruge Jagath

Introduction: In Pseudohypoparathyroidism (PHP), parathyroid glands are normal or hyperplastic and they can synthesize and secrete parathyroid (PTH) hormone. Serum immunoreactive PTH are elevated even when the patient is normocalcemic. Neither endogenous nor administered PTH raises the serum Ca or lowers the levels of P. Depending on the phenotypic and biological findings, PHP is classified into various types.Case Report:</strong...