IPEX syndrome: an easily-missed diagnosis of a life threatening condition

Özet

We are reporting a case of neonatal diabetes mellitus, eczema andchronic diarrhea, suspected clinically to have ImmunodysregulationPolyendocrinopathy Enteropathy X-linked (IPEX) syndrome and the diagnosiswas confirmed by genetic testing. IPEX syndrome is a rare inherited X-linkedrecessive condition, causing life-threatening systemic autoimmune disorderwhich is characterized by immune dysregulation, polyendocrinopathy andenteropathy. The child who presented to our clinic at 11 months of age,had diabetic ketoacidosis at the age of 3 weeks, and was managed at thattime and then was started on multiple dose insulin injection regimen, alsohe had a history of recurrent episodes of eczematous dermatitis and chronicdiarrhea that started since early infancy. The rarity of this condition, mayhad led to delayed diagnosis and hence delayed definitive treatment – namelybone marrow transplant, which has variable outcomes. Immunosuppressivetreatment can be used, if bone marrow transplant is not feasible.