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Journals / Turkish Journal of Pediatrics / 2019 / Cilt: 61 - Sayı: 3

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

Abeer ALASSAF
Rasha ODEH
Pages
424–427
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Immunosuppressivetreatment can be used, if bone marrow transplant is not feasible.

📌 3 Key Takeaways

🎯
Objective & Hypothesis: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.
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Key Findings & Data: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.
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Conclusion & Impact:Immunosuppressivetreatment can be used, if bone marrow transplant is not feasible.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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.

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Cite This Article

ALASSAF, A., ODEH, R. (2019). IPEX syndrome: an easily-missed diagnosis of a life threatening condition. Turkish Journal of Pediatrics, Cilt: 61 - Sayı: 3, 424–427. https://ajindex.com/articles/411893

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References (14)

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