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KMID : 0816120140170040257
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Korean Journal of Pediatric Gastroenterolology and Nutrition
2014 Volume.17 No. 4 p.257 ~ p.262
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The Complex Surgical Management of the First Case of Severe Combined Immunodeficiency and Multiple Intestinal Atresias Surviving after the Fourth Year of Life
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Riccardo Guana
Salvatore Garofalo
Elisabetta Teruzzi
Simona Vinardi
Giulia Carbonaro
Alessia Cerrina
Isabella Morra
Davide Montin
Alessandro Mussa
Jurgen Schleef
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Abstract
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Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections and gastro-intestinal alterations due to severe compromise of T cells and B cells. Clinically, most patients present symptoms before the age of 3 months and without intervention SCID usually results in severe infections and death by the age of 2 years. Its association with intestinal anomalies as multiple intestinal atresias (MIA) is rare and worsens the prog-nosis, resulting lethal. We describe the case of a four year-old boy with SCID-MIA. He presented at birth with meco-nium peritonitis, multiple ileal atresias and underwent several intestinal resections. A targeted Sanger sequencing revealed a homozygous 4-bp deletion (c.313ΔTATC; p.Y105fs) in tetratricopeptide repeat domain 7A (TTC7A).He experienced surgical procedures including resection and stricturoplasty. Despite parenteral nutrition-associated liver disease, the patient is surviving at the time of writing the report. Precocious immune system assessment, scrutiny of TTC7A mutations and prompt surgical procedures are crucial in the management.
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KEYWORD
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Severe combined immunodeficiency, Multiple intestinal atresias, Intestinal resection
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