Diabetes neonatal permanente asociada a hipotiroidismo, sordera y rasgos dismórficos

Abstract

Neonatal diabetes mellitus is defined as hyperglycemiadetected in the first month of life of more than 2 weeks’ duration, requiring insulin treatment. It is extremely uncommon (1/500,000 neonates) and is permanent in only30 % of cases. Several hypotheses concerning its etiologyhave been postulated, such as pancreatic immaturity, paternal uniparental isidisomy of chromosome 6, and theexistence of a gene located in the 6q22-23 chromosome region subjected to imprinting and exclusively of paternalexpression. The management of these patients is usuallydifficult. These neonates are underweight for their gestational age, and neither anti-insulin antibodies nor anti-is-lets are detected. We studied a neonate hospitalized because of low weightfor his gestational age with dimorphic features and hyperglycemia since the 17th day of life. Clinical and anatomical follow-up has been periodically performed to the present date. The child presents permanent neonatal diabetes with negative antibodies. Although various insulinpatterns have been used since the onset of the syndrome,management remains difficult. The child presents hypothyroidism, bilateral neurosensory deafness, bilateralcongenital cataract, myopia, dimorphic features, congenital stridor and slow weight-stature curve. The results ofmuscle biopsy and metabolic studies were normal. Wolfram’s syndrome and mitochondrial diabetes were ruledout. This is an exceptional case of permanent neonatal diabetes associated with other malformations correspondingto no known syndromic patterns.