Diabetes mellitus neonatal transitoria por duplicación paterna 6q24 / Transient neonatal mellitus diabetes due to paternal duplication 6q24

ABSTRACT

Neonatal diabetes mellitus is defined as severe hyperglycemia beginning during the first six months of life, lasting at least one month and needing insulin as a treatment. The incidence is about 1 in 200.000 born alive. We report a preterm female newborn, small for gestational age, whose actual age is 19 months. At the third day of life she became severely ill, with serious shock, losing 20 percent of her weight at birth. Laboratory work-up showed a blood glucose level of 633 mg/dl, hypernatremia, metabolic acidosis and renal failure. During the initial 4 months she was treated with insulin infusions that were tapered and finally discontinued at four months of age. The molecular study of this patient showed abnormal maternal methylation at chromosome 6 and the novo paternal duplication of 6q24.