Publication:

Case of infantile obesity

Congenital leptin receptor deficiency is a rare autosomal recessive form of monogenic obesity caused by loss-of-function mutations in the leptin receptor function. Due to its subtle signs and symptoms early diagnosis of this becomes a challenge. We report a case of a 7-month-old male child who presented with the complaints of excessive weight gain on exclusive breast feeding with no dysmorphism or developmental delay. Whole exome sequencing helped in diagnosis of leptin receptor deficiency. Specific investigations are needed for diagnosis of genetic forms of obesity. Specific diagnosis helps to prognosticate and counsel parents and help physicians to improve their care in patients with severe early onset obesity.