P-232: IPEX syndrome presenting as severe diabetic ketoacidosis in early infancy: diagnostic and management challenges in a resource-limited setting
H H Zeb, Y Tariq, F Memon, K N HumayunAbstract
Introduction
Neonatal diabetes mellitus (NDM) is a rare condition presenting within the first six months of life, most commonly due to monogenic causes. Rarely, it may occur as part of autoimmune syndromes such as IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome caused by FOXP3 mutations. In resource-limited settings, overlapping clinical features and restricted access to advanced diagnostics often delay recognition, increasing morbidity and mortality.
Objectives
To highlight the diagnostic difficulties and management challenges of IPEX syndrome presenting as severe diabetic ketoacidosis (DKA) in early infancy in a resource-constrained environment.
Methods
We report a 6-week-old male presenting with persistent diarrhea, failure to thrive, and acute metabolic decompensation. Laboratory evaluation included blood glucose, arterial blood gases, electrolytes, and autoimmune markers. Management followed standard DKA protocol with insulin infusion, fluid resuscitation, and electrolyte correction. Genetic testing for FOXP3 mutation was performed.
Results
The infant presented with severe DKA (glucose 484 mg/dL, pH 7.11, bicarbonate <5 mmol/L), requiring mechanical ventilation and inotropic support. Despite stabilization, the course was complicated by marked glycemic variability with recurrent hypoglycemia on minimal insulin doses. HbA1c was 5.6%, likely unreliable due to prior transfusion. Anti-GAD antibodies were markedly elevated (1917.9 U/mL). Diagnostic delays due to limited resources and challenges in insulin titration, particularly lack of devices allowing doses <1 unit, further complicated management. The coexistence of neonatal diabetes, intractable diarrhea, and dermatitis raised suspicion for IPEX syndrome, later confirmed by FOXP3 mutation, with maternal carrier status identified.
Conclusions
IPEX syndrome should be suspected in male infants presenting with neonatal diabetes, severe DKA, and multisystem involvement. In resource-limited settings, early clinical.