The Turkish Journal of Pediatrics 2019 , Vol 61 , Num 3
IPEX syndrome: an easily-missed diagnosis of a life threatening condition
Abeer Alassaf 1 ,Rasha Odeh 1
1 Pediatric Endocrinology Division, The University of Jordan, 11942, P.O.Box 13046, Queen Rania Street, Amman, Jordan DOI : 10.24953/turkjped.2019.03.016 Alassaf A, Odeh R. IPEX syndrome: an easily-missed diagnosis of a life threatening condition. Turk J Pediatr 2019; 61: 424-427.

We are reporting a case of neonatal diabetes mellitus, eczema and chronic diarrhea, suspected clinically to have Immunodysregulation Polyendocrinopathy Enteropathy X-linked (IPEX) syndrome and the diagnosis was confirmed by genetic testing. IPEX syndrome is a rare inherited X-linked recessive condition, causing life-threatening systemic autoimmune disorder which is characterized by immune dysregulation, polyendocrinopathy and enteropathy. 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 that time and then was started on multiple dose insulin injection regimen, also he had a history of recurrent episodes of eczematous dermatitis and chronic diarrhea that started since early infancy. The rarity of this condition, may had led to delayed diagnosis and hence delayed definitive treatment – namely bone marrow transplant, which has variable outcomes. Immunosuppressive treatment can be used, if bone marrow transplant is not feasible.

Our aim is to increase the awareness of physicians to this rare syndrome, which usually presents as neonatal diabetes mellitus, eczematous dermatitis and chronic diarrhea. The earlier the diagnosis of this condition, the better the outcome. Keywords : IPEX syndrome, neonatal, diabetes mellitus, autoimmune disease

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