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.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.
cagA testing may be of useful clinical interest because its positivity can imply a more severe gastritis and a lower susceptibility to eradication treatment.
Meckel's diverticulum, the most common congenital abnormality of the small intestine, may be associated to heterotopic pancreas, often diagnosed incidentally on histopathological examination. Intussusception affects infants between the ages of 5 and 9 months, but it may also occur in older children, teenagers and adults, and in some cases can be derived by a Meckel's diverticulum resulting in acute abdomen. We analyse the management and the recent literature on similar cases, describing diagnostic options. In May 2013, a 7-year-old girl admitted to our hospital with recurrent gastrointestinal bleeding, was discovered to have an ileoileal intussusception with a leading Meckel's diverticulum with heterotopic pancreatic tissue. This association is rare evidence in children and its proper management can be controversial, in particular from a diagnostic point of view. In such cases, preoperative radiological diagnosis can be only suspected in the presence of suggestive signs, more often depicted by ultrasound or computed tomography scan. During laparotomy an accurate exploration of all ileum is recommended, for the possibility to find others heterotopic segments.
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