Introduction: Immunodysregulation polyendocrinopathy enteropathy x-linked syndrome (IPEX) is characterized by systemic autoimmunity, typically beginning in the first year of life. Most commonly triad of symptoms of diarrhea, dermatitis and endocrinopathy is present.
Case report: Presentatlion of male patient, born with body weight 3840 grams and 10 points in Apgar scale. In 13th day of life vomitting and tachypnoe were noted and in laboratory tests hyperglycemia of 653 mg/dl (36.2 mmol/l) and ketoacidosis were reported. Patient was diagnosed with diabetes and treatment with continous insulin infusion by insulin pump was started. Antibodies typical for diabetes type 1 were negative. In 9th month of life boy was hospitalized in the Department of Pediatrics, Diabetology and Endocrinology in Gdansk, Poland and mutation in KCNJ11 gene was excluded, but autoimmune thyroiditis was diagnosed and L-tyroxin treatment was implemented. In 12th month of life patient was diagnosed with nephrotic syndrome resistant to steroids. Patient had also periodical skin lesions and diarrhea. According to clinical presentation IPEX syndrome was suspected, T regulatory cells levels were normal and sample for genetic test for FOXP3 mutations was sent. One month later patient was diagnosed with absence seizures. Brain MRI scans were normal, but anti-neuronal antibodies (ABA) were highly possitive. Also anti-tissue transglutaminase antibodies were possitive and gluten free diet was started. In molecular tests performer in Department of Clicial Genetic in Łódź mutation in FOXP3 was found. Patient had started immunosupresion and had bone marrow transpalantation performed in Medical University in Wroclaw, Poland at the age of 2 years.
Conclusion: Neonatal diabetes in male patient with negative test for most common genetic causes of neonatal diabetes can be first symptom of IPEX syndrome.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology