No abstract

Autoimmune polyendocrinopathy syndrome type 1 (APS-1) is characterized by the presence of at least two out of three clinical features, which include chronic mucocutaneous candidiasis (CMC), Addison's disease and hypoparathyroidism. The authors' present an one and a half year old girl with recurrent oral thrush who presented with generalised afebrile seizure. Evaluation revealed severe hypocalcemia with low parathormone and normal vitamin D level consistent with hypoparathyroidism. In view of the oral candidiasis and hypoparathyroidism, a clinical possibility of autoimmune polyglandular syndrome (type 1) was strongly considered. Her mother, on subsequent pregnancy was subjected to gene analysis of the fetus (chorionic villus sampling) and also for this child (index case). Both the fetus and index child were confirmed to have the AIRE gene mutation of APS1. After detailed counseling the parents opted for medical termination of the pregnancy. In children who present with recurrent oral thrush we need to consider but also look beyond immunodeficiency.

Scrub typhus is a common Rickettsial infection which is endemic in tropical regions. It is characterised by fever, eschar, thrombocytopenia, lymphadenopathy and organomegaly. Scrub typhus has significant morbidity and mortality owing to its multisystemic involvement. Non-inflammatory polyarthritis of small joints is an uncommon presentation in paediatric scrub typhus. We discuss a five-year-old boy who presented with fever, small joint polyarthritis, hepatosplenomegaly and pathognomonic eschar with positive scrub IgM ELISA. Arthritis resolved completely with doxycycline therapy without any deformity.