IMPE Abstracts

Dicer one mutation syndrome is a familial tumour predisposition entity caused by mutations on Dicer 1, an important component of the micro-RNA processing pathway. Clinical manifestations include pleuropulmonary blastoma, anaplastic renal sarcoma, Wilms tumour, Sertoli Leydig cell tumour, differentiated thyroid carcinoma, ciliary body medulloepitelioma, embryonal rhabdomyosarcoma and primary brain tumours. We describe a case of a nine-year-old boy seen in the endocrinology clin...

Background: Autoimmune polyglandular syndromes are rare in children. APS-1 typically presents in childhood and adolescence, is due to mutation in AIRE gene. APS-2 typically presents in adolescence and adulthood, is polygenic in nature. Myasthenia gravis is an autoimmune disorder characterized by neuromuscular weakness, fatigue, due to autoantibodies toward acetylcholine receptor. The association of myasthenia gravis with other autoimmune diseases is well known...