
A RARE CASE OF A YOUNG INFANT WITH MONOGENIC DIABETES MELLITUS AND CENTRAL VENOUS SINUS THROMBOSIS
Author(s) -
Pranjali D. Patil,
Rajesh Kulkarni,
Aarti Kinikar
Publication year - 2020
Publication title -
international journal of scientific research
Language(s) - English
DOI - 10.36106/ijsr/7134954
Subject(s) - medicine , diabetes mellitus , etiology , pediatrics , disease , insulin , venous thrombosis , endocrinology , thrombosis
Diabetes mellitus is a metabolic disease characterised by chronically high glucose levels. Genetic factors have been implicated in the etiology following mutations in a single gene. An extremely rare form of diabetes mellitus is monogenic diabetes, a subset of which is permanent neonatal diabetes which is usually suspected in a child less than 6 months presenting with hyperglycaemia. We are reporting case of a 40 days old female child with an autosomal dominant INS gene mutation which results in permanent neonatal diabetes in infants requiring lifelong insulin therapy.