Surgical treatment of complex intestinal atresia is challenging. Moreover, multiple surgical techniques have been described to treat these congenital malformations. As no single/universal technique is useful for every patient, individualized surgical treatment for these complex cases is mandatory. Isolated apple peel atresia (type IIIb), in coexistence with other types of atresia, is a rare event with a poor functional prognosis, which is difficult to treat surgically. Furthermore, the ability to achieve good surgical results becomes more difficult in resource-limited health facilities, such as the Hospital Pediatrico Moctezuma (Mexico City). The objective of this case report of two full-term female newborns with isolated apple peel atresia and an apple peel malformation with distal type IV atresia is to describe the successful surgical technique used in these patients and how to deal with certain postsurgical complications.

Congenital pyloric atresia (CPA) is a rare condition that presents as gastric outlet obstruction in the first few weeks of life. Isolated CPA typically carries a good prognosis but when associated with other conditions such as multiple intestinal atresia or epidermolysis bullosa (EB), the outcomes are generally poor. This report describes a four-day-old infant who presented with nonbilious emesis and weight loss in whom an upper gastrointestinal contrast study revealed gastric outlet obstruction determined to be consistent with pyloric atresia. The patient underwent operative repair via Heineke-Mikulicz pyloroplasty. Postoperatively, the patient continued to have severe diarrhea and was found to have desquamative enteropathy though had no skin findings consistent with EB. This report emphasizes consideration of CPA as a differential diagnosis for neonates presenting with nonbilious emesis and demonstrates the association between CPA and desquamative enteropathy without EB.

Multiple intestinal atresia (MIA) is a rare cause of neonatal intestinal obstruction. To provide an overview of the current prenatal, surgical, and nutritional management of MIA, we report our experience and a literature review of papers published after 1990. All cases of isolated MIA (non-hereditary, not associated with apple-peel syndrome or gastroschisis) treated at our institution between 2005 and 2016 were reviewed and compared with cases found in the literature. Seven patients were prenatally suspected of having intestinal obstruction and were postnatally diagnosed with MIA, with a mean 1.7 (1-2) resections-anastomoses (RA) and 6 (1-10) strictureplasties performed, resulting in a mean resected bowel length of 15.1cm (15-25 cm). Median time to full oral feed was 46 days (14-626 days). All patients were alive and none had orality disorder after a mean follow-up of 3.1 years (0.2-8.1 years). Three surgical strategies were found in the literature review: multiple RA (68%, 34/50) including Santulli's technique in four of 34 (12%) and anastomoses over a transanastomotic tube (32%, 16/50), with a 98% survival rate, and short-bowel syndrome for only two patients. Bowel-sparing surgery and appropriate medical management are key to ensuring a favorable nutritional and gastrointestinal outcome and a good prognosis. Prenatal assessment and standardization of the surgical course of treatment remain challenging.

Little is known about differences in immune function among children with multiple intestinal atresia (MIA) and those with isolated intestinal atresia (IA), and how such differences may manifest as infectious complications and patient outcomes. This study aimed to investigate the immune function and its impact on patient outcomes in IA and MIA children. A single-center retrospective cohort study included children aged 0-19 years with intestinal atresia who were referred to a multidisciplinary intestinal rehabilitation program from 1/2000 to 12/2016. Data were collected for patient characteristics, surgical history, immunologic work-up, and infection-related hospitalizations. Groups of IA and MIA children were compared using chi-square test or Fisher's exact test for categorical variables and using Mann-Whitney test for continuous variables, as appropriate. Twenty-seven children (18 IA, 9 MIA) were included. More than half of the patients had low CD counts for age in IA and MIA groups: CD3 58.3% vs. 66.7% (p = 1.0), CD4 50.0% vs. 66.7% (p = 0.7), CD8 67.7% vs. 88.9% (p = 0.3), respectively. Six out of 12 IA children and 3 out of 8 MIA children had hypogammaglobulinemia (p = 0.7). Three out of 10 IA patients and 3 out of 5 MIA children had frequent bacteremia (≥5/year). Eight children (6 IA and 2 MIA) underwent intestinal and/or liver transplant; MIA children had a worse posttransplant outcome. IA children may have an immunodeficiency and associated infectious complications requiring hospitalization. We suggest performing immunologic evaluation not only in MIA but also in IA children presenting to an intestinal rehabilitation program to identify immunodeficiency. Early immunodeficiency screening may help initiate appropriate intervention and improve patient outcomes. Level III.

The gastrointestinal tract contains the largest lymphoid organ to react with pathogenic microorganisms and suppress excess inflammation. Patients with primary immunodeficiency diseases (PIDs) can suffer from refractory diarrhea. In this study, we present two siblings who began to suffer from refractory diarrhea with a poor response to aggressive antibiotic and immunosuppressive treatment after surgical release of neonatal intestinal obstruction. Their lymphocyte proliferation was low, but superoxide production and IL-10 signaling were normal. Candidate genetic approach targeted to genes involved in PIDs with inflammatory bowel disease (IBD)-like manifestation was unrevealing. Whole-genome sequencing revealed novel heterozygous mutations Glu75Lys and nucleotide 520-521 CT deletion in the tetratricopeptide repeat domain 7A (TTC7A) gene. A Medline search identified 49 patients with TTC7A mutations, of whom 20 survived. Their phenotypes included both multiple intestinal atresia (MIA) and combined T and/or B immunodeficiency (CID) in 16, both IBD and CID in 14, isolated MIA in 8, MIA, IBD, and CID complex in 8, and isolated IBD in 3. Of these 98 mutant alleles over-through the coding region clustering on exon 2 (40 alleles), exon 7 (12 alleles), and exon 20 (10 alleles), 2 common hotspot mutations were c.211 G>A (p.E71K in exon 2) in 26 alleles and AAGT deletion in exon 7 (+3) in 10 alleles. Kaplan-Meier analysis showed that those with biallelic missense mutations (p = 0.0168), unaffected tetratricopeptide repeat domains (p = 0.0311), and developing autoimmune disorders (p = 0.001) had a relatively better prognosis. Hematopoietic stem cell transplantation (HSCT) restored immunity and seemed to decrease the frequency of infections; however, refractory diarrhea persisted. Clinical improvement was reported upon intestinal and liver transplantation in a child with CID and MIA of unknown genetic etiology. In conclusion, patients with TTC7A mutations presenting with the very early onset of refractory diarrhea had limit improvement by HSCT or/and tailored immunosuppressive therapy in the absence of suitable intestine donors. We suggest that MIA-CID-IBD disorder caused by TTC7A mutations should also be included in the PID classification of "immunodeficiencies affecting cellular and humoral immunity" to allow for prompt recognition and optimal treatment.