Small-bowel atresias: a case series with review of the disease and imaging findings.

Small-bowel atresias are among the most common causes of intestinal obstruction in newborns, and they often require urgent surgical treatment. Imaging techniques play a very important role in their diagnosis, which is often suspected on prenatal obstetric ultrasound and confirmed on postnatal plain-film X-rays. Abdominal ultrasound's lack of ionizing radiation, wide availability, low cost, and high resolution is making this technique increasingly important in confirming atresias and in detecting possible complications in newborns. This review analyzes a series of cases seen at our center. It summarizes the different types of small-bowel atresias, focusing on the clinical presentation, imaging findings on different modalities, presence of associated disease, management, clinical course, and outcomes.

Atresias de intestino delgado. Revisión de la patología y hallazgos radiológicos asociados a distintos casos / Small-bowel atresias: a case series with review of the disease and imaging findings

Las atresias de intestino delgado son una de las causas más frecuentes de obstrucción intestinal en el neonato y habitualmente requieren tratamiento quirúrgico urgente. Las técnicas de imagen conforman una parte muy importante del diagnóstico, aportando la ecografía obstétrica prenatal la sospecha inicial y siendo la radiografía simple de abdomen la prueba que confirma el diagnóstico tras el nacimiento. La ecografía abdominal en el recién nacido está cobrando cada vez mayor importancia, debido a su inocuidad, disponibilidad, bajo coste y alta capacidad de resolución, tanto para la confirmación del diagnóstico como para la detección de las posibles complicaciones asociadas. En este artículo analizamos una serie de casos vistos en nuestro centro y elaboramos un resumen de los diferentes tipos de atresias de intestino delgado, haciendo hincapié en la clínica, los hallazgos radiológicos obtenidos en las diferentes modalidades de imagen, la existencia de patología asociada, su manejo y su evolución.(AU)

Small-bowel atresias are among the most common causes of intestinal obstruction in newborns, and they often require urgent surgical treatment. Imaging techniques play a very important role in their diagnosis, which is often suspected on prenatal obstetric ultrasound and confirmed on postnatal plain-film X-rays. Abdominal ultrasound's lack of ionizing radiation, wide availability, low cost, and high resolution is making this technique increasingly important in confirming atresias and in detecting possible complications in newborns. This review analyzes a series of cases seen at our center. It summarizes the different types of small-bowel atresias, focusing on the clinical presentation, imaging findings on different modalities, presence of associated disease, management, clinical course, and outcomes.(AU)

Small-bowel atresias: a case series with review of the disease and imaging findings. / Atresias de intestino delgado. Revisión de la patología y hallazgos radiológicos asociados a distintos casos.

Small-bowel atresias are among the most common causes of intestinal obstruction in newborns, and they often require urgent surgical treatment. Imaging techniques play a very important role in their diagnosis, which is often suspected on prenatal obstetric ultrasound and confirmed on postnatal plain-film X-rays. Abdominal ultrasound's lack of ionizing radiation, wide availability, low cost, and high resolution is making this technique increasingly important in confirming atresias and in detecting possible complications in newborns. This review analyzes a series of cases seen at our center. It summarizes the different types of small-bowel atresias, focusing on the clinical presentation, imaging findings on different modalities, presence of associated disease, management, clinical course, and outcomes.

TTC7A mutation must be considered in patients with repeated intestinal atresia associated with early inflammatory bowel disease: Two new case reports and a literature review.

TTC7A mutations cause multiple neonatal intestinal atresias with early inflammatory bowel disease and severe combined immunodeficiency. There are no treatment protocols for this rare disease. Two new cases are described for which radical early treatment measures - total enterectomy, home parenteral nutrition, immunoglobulin therapy and intravenous antibiotic prophylaxis - have allowed both patients to develop optimally.

Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.

Familial multiple intestinal atresias is an autosomal recessive disease with or without combined immunodeficiency. In the last year, several reports have described mutations in the gene TTC7A as causal to the disease in different populations. However, exact correlation between different genotypes and various phenotypes are not clear. In this study, we report identification of novel compound heterozygous mutations in TTC7A gene in a Malay girl with familial multiple intestinal atresias and severe combined immunodeficiency (MIA-SCID) by whole exome sequencing. We found two mutations in TTC7A: one that destroyed a putative splicing acceptor at the junction of intron 17/exon 18 and one that introduced a stop codon that would truncate the last two amino acids of the encoded protein. Reviewing the recent reports on TTC7A mutations reveals correlation between the position and nature of the mutations with patient survival and clinical manifestations. Examination of public databases also suggests carrier status for healthy individuals, making a case for population screening on this gene, especially in populations with suspected frequent founder mutations.

The complex surgical management of the first case of severe combined immunodeficiency and multiple intestinal atresias surviving after the fourth year of life.

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.

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

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.

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

BACKGROUND: Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. OBJECTIVE: We sought to determine the underlying genetic causes of CID-MIA by analyzing the exomic sequences of 5 patients and their healthy direct relatives from 5 unrelated families. METHODS: We performed whole-exome sequencing on 5 patients with CID-MIA and 10 healthy direct family members belonging to 5 unrelated families with CID-MIA. We also performed targeted Sanger sequencing for the candidate gene tetratricopeptide repeat domain 7A (TTC7A) on 3 additional patients with CID-MIA. RESULTS: Through analysis and comparison of the exomic sequence of the subjects from these 5 families, we identified biallelic damaging mutations in the TTC7A gene, for a total of 7 distinct mutations. Targeted TTC7A gene sequencing in 3 additional unrelated patients with CID-MIA revealed biallelic deleterious mutations in 2 of them, as well as an aberrant splice product in the third patient. Staining of normal thymus showed that the TTC7A protein is expressed in thymic epithelial cells, as well as in thymocytes. Moreover, severe lymphoid depletion was observed in the thymus and peripheral lymphoid tissues from 2 patients with CID-MIA. CONCLUSIONS: We identified deleterious mutations of the TTC7A gene in 8 unrelated patients with CID-MIA and demonstrated that the TTC7A protein is expressed in the thymus. Our results strongly suggest that TTC7A gene defects cause CID-MIA.

Pyloric atresia in association with multiple colonic atresias in a neonate: an unreported association.

Pyloric atresia is rare cause of gastrointestinal obstruction in neonates and usually occurs as an isolated anomaly. They have been associated with multiple small bowel and colonic atresias but not reported in association with isolated multiple colonic atresias. A case of pyloric atresia occurring in association with multiple colonic atresias is being reported here.