Triple Atresia, Triple Threat? An Unusual Constellation of Primary Surgical Abnormalities.

We present a case series of two patients with tracheo-oesophageal fistula with oesophageal atresia (TOF/OA), duodenal atresia (DA) and ano-rectal malformation (ARM). This constellation of abnormalities, dubbed triple atresia (TA), is a rare combination with few described cases in the literature. Here we describe our management of these cases, as well as the results of our literature review. Both of our cases had staged surgical procedures and were initially managed with thoracotomy for repair of TOF/OA on day two of life. They subsequently underwent laparotomy for management of their abdominal pathology at day five and seven of life. Both have survived the neonatal period and are awaiting definitive surgery for ARM. Literature review yielded seven cases of TA involving a TOF, DA, and ARM. Four patients underwent staged repair, while three patients underwent repair of TOF/OA, DA and colostomy for ARM at the same time. Of these three patients, two died, representing 22% of the overall cohort. Triple atresia remains a rare subset of patients suspected to have VACTERL association, however mortality may be significantly higher. Our data would suggest a staged approach to be optimal for long term survival.

[Morbidity of congenital heart disease in children with anorectal malformations and related treatment].

OBJECTIVE: To investigate the morbidity of congenital heart defects(CHDs) in children with anorectal malformation, and to summarize appropriate treatment. METHODS: The clinical data and echocardiographic findings of 155 children with congenital anorectal malformations from the Third Affiliated Hospital of Zhengzhou University during January 2016 and October 2019 were reviewed. According to the surgical findings of anorectal malformations, the patients were categorized as the high/intermediate group and the low group; the CHDs were classified as minor CHDs and major CHDs. Multiple logistic regression was used to analyze the correlation of wingspread classification, and extracardiac malformations with the severity of CHDs. RESULTS: Out of 155 children with anorectal malformations, 47 (30.3%) had different types of cardiac structural malformations, including 18 cases of minor CHDs (11.6%) and 29 cases of major CHDs (18.7%). Sixty children (38.7%) had extracardiac malformations, of which 38 cases (24.5%) had a single extracardiac malformation, 15 cases (9.7%) had multiple extracardiac malformations, 6 had trisomy 21 syndrome, and 1 had VATER syndrome. Multivariate logistic regression analysis showed that wingspread classification of anorectal malformation and extracardiac disorders were independent risk factors for major CHDs. The probability of major CHDs in children with high/intermediate anorectal malformation was 4.709 times higher than that with low anorectal malformation (OR=4.709, 95% CI: 1.651-13.432, P<0.01). The probability of major CHDs was 3.85 times higher for increasing each additional grade of extracardiac malformations(without, with single, or multiple malformations) (OR=3.850, 95% CI: 2.065-7.175, P<0.01). According to the presence and severity of CHDs, children with anorectal malformations were classified into three categories: without CHDs, with minor CHDs and with major CHDs, for differential treatment and management. Anorectal malformations would be treated and managed in children without CHDs and with minor CHDs following the original plan; however, children with minor CHDs may require cardiac follow-up after surgery. In children with major CHDs, the personalization tactics were developed based on the principle of emergency first. There were increased perioperative infection rate (P<0.05), longer hospital days (P<0.01), reduced cure rate (P<0.05) and increased mortality (P<0.05) in children with major, compared with those without CHDs and minor CHDs. CONCLUSIONS: The morbidity of major CHDs is higher in severe cases with high/intermediate anorectal malformation and acute cases without fistula or with obstructed fistula and cases with multiple congenital disorders. Echocardiography can define the type and severity of CHDs, which are useful to develop the optimal diagnosis and treatment plan for children with anorectal malformation.

Morbidity of congenital heart disease in children with anorectal malformations and related treatment / 浙江大学学报·医学版

OBJECTIVE@#To investigate the morbidity of congenital heart defects(CHDs) in children with anorectal malformation, and to summarize appropriate treatment.@*METHODS@#The clinical data and echocardiographic findings of 155 children with congenital anorectal malformations from the Third Affiliated Hospital of Zhengzhou University during January 2016 and October 2019 were reviewed. According to the surgical findings of anorectal malformations, the patients were categorized as the high/intermediate group and the low group; the CHDs were classified as minor CHDs and major CHDs. Multiple logistic regression was used to analyze the correlation of wingspread classification, and extracardiac malformations with the severity of CHDs.@*RESULTS@#Out of 155 children with anorectal malformations, 47 (30.3%) had different types of cardiac structural malformations, including 18 cases of minor CHDs (11.6%) and 29 cases of major CHDs (18.7%). Sixty children (38.7%) had extracardiac malformations, of which 38 cases (24.5%) had a single extracardiac malformation, 15 cases (9.7%) had multiple extracardiac malformations, 6 had trisomy 21 syndrome, and 1 had VATER syndrome. Multivariate logistic regression analysis showed that wingspread classification of anorectal malformation and extracardiac disorders were independent risk factors for major CHDs. The probability of major CHDs in children with high/intermediate anorectal malformation was 4.709 times higher than that with low anorectal malformation (@*CONCLUSIONS@#The morbidity of major CHDs is higher in severe cases with high/intermediate anorectal malformation and acute cases without fistula or with obstructed fistula and cases with multiple congenital disorders. Echocardiography can define the type and severity of CHDs, which are useful to develop the optimal diagnosis and treatment plan for children with anorectal malformation.

The conus medullaris ratio: A new way to identify tethered cord on MRI.

PURPOSE: Approximately 25% of patients with anorectal malformation have tethered cord. The traditional way of determining conus medullaris level on magnetic resonance imaging (MRI) relies on counting vertebrae, which may be challenging due to vertebral numeric variation, segmentation anomalies, as well as transitional vertebral body anatomy. The purpose of this study was to utilize more reliable anatomic landmarks (foramen magnum, conus termination, and the upper limit of the iliac crest) to establish a consistent ratio that may differentiate patients with normal and low-lying conus. METHODS: A single institution database search identified two groups of patients: 255 with normal and 85 with abnormal spinal MRI, who underwent tethered cord release. The conus medullaris ratio was calculated in both groups. The ratio was obtained by dividing the distance between the conus level and the iliac crest by the distance between the foramen magnum and the conus level (IRB # 16-2330). RESULTS: The mean ratio was significantly higher in the non-tethered group compared to the tethered patients (0.184 [sd 0.03] versus 0.118 [sd 0.09]; P < .0001). The ratio proved to be a good discriminator between normal and abnormal patients, with area under the curve (AUC) equal to 0.749, meaning that at random, there is a 75% chance that the tethered cord patient will have a lower ratio than the non-tethered cord patient. CONCLUSION: "The Conus Medullaris Ratio" is a good predictor of low-lying conus level on MRI and offers an easy alternative to counting vertebral body levels, particularly in patients with variant or abnormal vertebral body anatomy. LEVEL OF EVIDENCE: II, Study of Diagnostic Test.

Triplicación tubular total de colon asociado a malformación ano rectal: reporte de un caso / Total tubular triplication of colon with anorectal malformation: a case report

La triplicación tubular total de colon es un caso único de presentación en nuestro medio, existen solo 9 casos reportados hasta el 2009 en la literatura mundial. Es una rara variación de la duplicación del intestino posterior, la patogenia probablemente sea similar al de la duplicación colónica. Se presenta el caso de un paciente varón de 38 semanas de gestación con malformación ano rectal, sin fístula evidente, se sometió a cirugía para sigmoidostomia. Ante el hallazgo inesperado del sigmoides triplicado se revisó todo el colon, encontrándose en toda su longitud, tres segmentos unidos entre sí, sin posibilidad de división uno del otro. El postoperatorio cursó sin complicaciones, sin embargo, el paciente falleció por Neumonia Staphilococica Multiresistente, 15 meses después, tras reiterados cuadros respiratorios. Se informa este caso, por la rareza de su conformación, la ausencia de reportes en la literatura nacional y muy escasas patologías con similares características de presentación a nivel mundial.

The total tubular triplication of the colon is a unique case reported in our environment; only 9 cases were reported up to 2009 in world literature. It's a rare variation of hindgut duplication, the pathogenesis is probably a similar theory of colonic duplication. A case report of 38 weeks of gestation male patient with anorectal malformation and without evident fistula; the patient had undergone surgery for sigmoidostomy. The unexpected finding of triplication sigmoid led to the complete evaluation of the colon. Consequently, it was found three joined segments in the whole length with any possibility to separate one from another. The postoperative period was without complications however, the patient died because of a Multi-Resistant Sthaphylococcus Pneumonia The present case is reported due to the rarity of its conformation and the absence of reports in the national literature and more little patholgyes with similar characteristics of presentation.

Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report.

BACKGROUND: The occurrence of an anorectal malformation with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously been reported in the literature. Hence, there is a need to document our experience in this case and learn as much as possible from it. CASE PRESENTATION: We present the case of a Nigerian female neonate with a postnatal diagnosis of syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity. The infant had successful staged correction of her anorectal malformation but developed a metastatic Wilms' tumor and died before other corrective procedures could be instituted. CONCLUSIONS: An anorectal malformation is here reported to occur with Holt-Oram syndrome, an association that has not been reported previously. To enhance the prognosis and quality of life of children with syndromic anorectal malformation, prenatal ultrasound monitoring of high-risk pregnancies and expertise in prenatal detection of congenital anomalies are invaluable in antenatal care.

Rectal diaphragm in a patient with imperforate anus and rectoprostatic fistula.

The association of rectal diaphragm in an imperforate anus has not been reported until now. A 1-year-old male presented with right transverse colostomy for high anorectal malformation. The patient had imperforate anus and a recto-prostatic fistula with rectal diaphragm. We managed the case by an ano-rectal pull through with excision of the diaphragm.