The Complex Surgical Management of the First Case of Severe Combined Immunodeficiency and Multiple Intestinal Atresias Surviving after the Fourth Year of Life.
10.5223/pghn.2014.17.4.257
- Author:
Riccardo GUANA
1
;
Salvatore GAROFANO
;
Elisabetta TERUZZI
;
Simona VINARDI
;
Giulia CARBONARO
;
Alessia CERRINA
;
Isabella MORRA
;
Davide MONTIN
;
Alessandro MUSSA
;
Jurgen SCHLEEF
Author Information
1. Division of Pediatric General Surgery, University of Torino, Regina Margherita Children's Hospital, Torino, Italy. riccardoguan@gmail.com
- Publication Type:Case Report
- Keywords:
Severe combined immunodeficiency;
Multiple intestinal atresias;
Intestinal resection
- MeSH:
B-Lymphocytes;
Humans;
Immune System;
Intestinal Atresia*;
Liver Diseases;
Male;
Meconium;
Parturition;
Peritonitis;
Prognosis;
Severe Combined Immunodeficiency*;
T-Lymphocytes;
Writing
- From:Pediatric Gastroenterology, Hepatology & Nutrition
2014;17(4):257-262
- CountryRepublic of Korea
- Language:English
-
Abstract:
Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections and gastrointestinal 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 prognosis, resulting lethal. We describe the case of a four year-old boy with SCID-MIA. He presented at birth with meconium peritonitis, multiple ileal atresias and underwent several intestinal resections. A targeted Sanger sequencing revealed a homozygous 4-bp deletion (c.313DeltaTATC; 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.
