Pediatr Gastroenterol Hepatol Nutr.  2014 Dec;17(4):257-262. 10.5223/pghn.2014.17.4.257.

The Complex Surgical Management of the First Case of Severe Combined Immunodeficiency and Multiple Intestinal Atresias Surviving after the Fourth Year of Life

• Guana R
• Garofano S
• Teruzzi E
• Vinardi S
• Carbonaro
• Cerrina A
• Morra I
• Montin D
• Mussa A
• Schleef J

• KMID: 2315501
• DOI: http://doi.org/10.5223/pghn.2014.17.4.257

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.

Keyword

Severe combined immunodeficiency; Multiple intestinal atresias; Intestinal resection

MeSH Terms

B-Lymphocytes
Humans
Immune System
Intestinal Atresia*
Liver Diseases
Male
Meconium
Parturition
Peritonitis
Prognosis
Severe Combined Immunodeficiency*
T-Lymphocytes
Writing

Figure

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  Fig. 1 Intra-operative findings at the time of the first laparotomy and intestinal reconstruction.

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  Fig. 2 Sanger sequencing revealed a homozygous 4-bp deletion (c.313ΔTATC) in exon 2 of TTC7A.

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  Fig. 3 Barium follow-through x-ray via gastrostomy and colostomy at 2 years of age, demonstrating patency of the gut lumen (A) and a satisfactory intestinal maturation (B).

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  Fig. 4 Magnetic resonance enterography at 3 years of age, evidencing absence of intestinal stenosis or dilation (A) and progressive development and growth of the gut (B).

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