Wolcott Rallison Syndrome: Beyond Neonatal Diabetes

Abstract

Background: Wolcott–Rallison Syndrome (WRS) is a rare autosomal recessive disorder characterized by permanent neonatal diabetes mellitus, skeletal dysplasia, hepatic dysfunction, and other systemic associations. Clinical Description: A 3-month-old infant with a history of fever and poor oral intake presented with severe dehydration, acidosis and 3+ urine ketones and was diagnosed to have sepsis and diabetic ketoacidosis (DKA). He also developed acute kidney injury (AKI) with blood urea 118 mg/dL and serum creatinine 1.5 mg/dL. Management: The child was ventilated, stabilized, and managed for DKA with fluids and insulin as per guidelines. AKI was managed with peritoneal dialysis. Genetic analysis revealed homozygous mutation in eukaryotic translation initiation factor 2-alpha kinase 3 gene consistent with the diagnosis of WRS. A close follow-up was kept with regular screening for other associated manifestations. Central hypothyroidism was detected first followed by skeletal dysplasia and chronic kidney disease. Growth retardation and developmental delay are also present. Conclusion: Neonatal diabetes cases need an early genetic work up and watchful follow-up for the manifestation of other possible associated features.