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Anorectal malformation
Published in Mark Davenport, James D. Geiger, Nigel J. Hall, Steven S. Rothenberg, Operative Pediatric Surgery, 2020
Marc A. Levitt, Richard J. Wood
Anorectal malformations (ARMs) have been described for centuries, with most children undergoing an operation to create an anal orifice on the perineum. If the rectum was located very close to the skin, most children survived, but many died, probably because the rectum was unreachable, located high in the pelvis. In 1835, Amussat reported, for the first time, suturing of the rectal wall to the skin edges, essentially the first anoplasty. Thereafter, surgeons performed a perineal operation, without a colostomy, for “low malformations.” “High imperforate anus,” on the other hand, was usually treated in the newborn period with a colostomy, followed by an abdominoperineal pull-through (with rectal resection) later in life. The specific recommendation was to pull the intestine as close to the sacrum as possible to avoid trauma to the genitourinary tract. Douglas Stephens performed the first objective anatomic studies of human cadavers with these defects, and in 1953 proposed an initial sacral approach to separate the rectum from the urinary tract with preservation of the puborectalis sling (considered a key factor in maintaining fecal continence). He also suggested opening the abdomen, if necessary, after the sacral approach.
Anorectal malformations: The newborn period
Published in Alejandra Vilanova-Sánchez, Marc A. Levitt, Pediatric Colorectal and Pelvic Reconstructive Surgery, 2020
Sabine Sarnacki, Sebastian King, Wilfried Krois
A female neonate is born at term, at the 38th week gestation, with a birth weight of 2990 g. A diagnosis of an imperforate anus is made. There is meconium in the urine suggesting a high ARM type. A colostomy is performed. Two weeks later a perineal hemangioma appears (Figure 3.4).
General Surgery
Published in Kaji Sritharan, Samia Ijaz, Neil Russell, Tim Allen-Mersh, 300 Essentials SBAs in Surgery, 2017
Kaji Sritharan, Samia Ijaz, Neil Russell, Tim Allen-Mersh
The patient has Hirschsprung’s disease. Hirschsprung’s disease has a spectrum of presentation, dependent on age. Neonates typically present with delayed passage of meconium, abdominal distension and bilious vomiting; children of a few months of age may present with chronic constipation and failure to thrive. Rectal biopsy will confirm the diagnosis, and it demonstrates aganglionosis of the Meissner’s (submucosal) and/or Auerbach’s (myenteric) plexuses and hypertrophy of the nerve fibres. Anal manometry will show absence of internal and sphincter relaxation. In hypertrophic pyloric stenosis, the vomiting is typically non-bilious. Duodenal atresia does not give rise to large-bowel obstruction. With imperforate anus (due to persistence of the anal membrane), there is usually an absence/abnormality of the anal opening.
Clinical Presentations and Diagnostic Imaging of VACTERL Association
Published in Fetal and Pediatric Pathology, 2023
Gabriele Tonni, Çağla Koçak, Gianpaolo Grisolia, Giuseppe Rizzo, Edward Araujo Júnior, Heron Werner, Rodrigo Ruano, Waldo Sepulveda, Maria Paola Bonasoni, Mario Lituania
Anorectal defects (ARDs) such as imperforate anus/anal atresia are one of the most common anomalies of VACTERL association occurring in 55-90% of patients [1, 23]. Even though an ARD is commonly seen in VACTERL, prenatal diagnosis of imperforate anus is usually challenging. In regard to gastrointestinal obstruction (GIO), an ARD affects 31% of fetuses with isolated GIO and 38% when GIO are associated with other congenital anomalies [31]. Although antenatal diagnosis of ARD is very difficult, few publications have described its detection at the time of the first-trimester combined test [26, 30, 32] (Figure 5). In this clinical scenario, fetal MRI can play a significant role in detecting anal atresia and may also help in providing appropriate parental counseling and in planning antenatal and postnatal management [33], because if imperforate anus/anal atresia is not surgically treated in a timely manner, it can cause anal stenosis or incontinence.
Mechanical inserts for the treatment of faecal incontinence: A systematic review
Published in Arab Journal of Urology, 2019
Kristen Buono, Bhumy Davé-Heliker
A randomised, cross-over trial was conducted amongst paediatric patients following imperforate anus repair to compare the efficacy of the Conseal anal insert vs the EFF-EFF polyvinyl-alcohol anal insert (Med. SSE-System, Nürnberg, Germany) [19]. Participants in both groups tested each type of anal insert for 3 weeks. Most study participants used the anal insert for 5–9 h on a daily basis, and a minority of participants used the insert infrequently. In all, 15 of the 38 participants (39%) failed to complete the study protocol. Overall, 12 of the 23 participants (52%) who completed the study protocol reported complete continence whilst wearing either anal insert. A non-significant difference in acceptable effectiveness, which was defined as ≤2 episodes of FI over 3 weeks, was seen between products (65% for the Conseal anal insert vs 74% for the EFF-EFF anal insert). At the completion of the study, 61% of participants preferred the Conseal anal insert vs 22% who preferred the EFF-EFF anal insert (P < 0.05). In all, 17% of participants reported no difference between the two products. Information regarding whether participants would continue to use the anal inserts after the study concluded was not reported.
Rare case of bilateral aural atresia and cochlear dysplasia: when cochlear implantation is not the answer
Published in Cochlear Implants International, 2018
A 13-year-old boy presented to the Otology clinic for auditory rehabilitation options. He has mild developmental delay, is non-verbal and communicates via American Sign Language, gestures and simple written sentences. He is performing at a 6-year-old level in school with a deaf curriculum. He never wore amplification. The patient’s medical history is significant for imperforate anus, which has been successfully surgically corrected and left strabismus. A maternal cousin has profound unilateral hearing loss. He has no history of otorrhea, otalgia or ear infections and has no problems with balance.