1 - NICU
2 - Genetics
3 - Pediatric Surgery
4 - Pediatric Endocrinology, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central
- 7th Excellence in Paediatrics. Londres, 10/12/2015 (Poster)
Introduction: diabetes mellitus is a rare cause of neonatal hyperglycemia (1:500.000 live-born). It is generally caused by mutations that affect insulinergic secretion from pancreatic beta cells and is generally not associated with malformations. The occurrence of malformations and intrauterine growth restriction in this setting generally points towards a polymalformative or genetic disorder.
Case description: female neonate born at 35 weeks of gestational age with a birth weight of 1370 g and a history of intrauterine growth restriction and double bubble sign present in antenatal ultrasounds. On her second day of life, she presented with hyperglycemia consistent with diabetes mellitus and cholestasis (maximum bilirubin levels of 6.17 mg/dL). Other associated malformations included duodenal atresia, annular pancreas, intestinal malrotation, gallbladder hypoplasia and ectopic peri-jejunal pancreatic tissue.
She was unsuccessfully treated with ursodesoxycholic acid and cholestasis resolved spontaneously during the first three months of life. Insulin treatment was initiated on the second day of life and required several adjustments until her weight allowed for insulin pump use. During the first month of life, after initiation of enteral feeding, she presented with malabsorption syndrome, requiring the use of several nutritional strategies. Aminoacid formula was reasonably tolerated and complementary feeding was initiated at 6 months of life.
This particular set of characteristics was suggestive of Mitchell-Riley syndrome, that was later confirmed by RFX6 gene sequencing, revealing a mutation in exon 4 c.541C>T, p.R181W.
Conclusion: genetic disorders, such as Mitchell-Riley syndrome, are a rare cause of neonatal diabetes and require a multidisciplinary approach with a complex endocrinological and nutritional management.
Palavras Chave: Cholestasis; Duodenal atresia; Mitchell-Riley syndrome; Neonatal diabetes mellitus;