Wide variation in anal sphincter muscles in cases of high- and intermediate-type male anorectal malformation

Watanabe, Yoshio; Takasu, Hidemi; Sumida, Wataru; Mori, Kensaku

doi:10.1007/s00383-012-3250-z

Cited by 9 publications

(6 citation statements)

References 9 publications

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“…It has been reported that the absence of an anus or perianal muscular complex may be a highly sensitive and specific marker that could be useful for the detection of anorectal atresia. However, previous reports have indicated that the muscular complex of the anus or anal canal may vary between the underdeveloped and normally developed stages; for example, the internal anal sphincter muscle is present in cases of high‐type anorectal atresia despite poor musculature development . According to Elchalal et al, a rudimentary external anal sphincter may be present in a few cases.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Evaluation for Detection of Anorectal Atresia: Value of Ultrasound

Lin

Chen

et al. 2018

J of Ultrasound Medicine

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Objectives To investigate the applicability and value of ultrasound (US) in the diagnosis of anorectal atresia. Methods Between January 2008 and January 2016, we prospectively evaluated 63,101 fetuses (gestational age, 20–38 weeks), including low‐ and high‐risk populations using 2‐dimensional US scans. An abnormal imaging finding was defined as an anal canal diameter of less than the 95% confidence interval (small anal canal) of the normal range or the absence of an anal canal and rectum. Imaging findings were considered normal on detection of an anal canal with a normal width and the absence of abnormalities. Prenatal imaging findings were confirmed by a postnatal or postmortem examination. Results Among the investigated fetuses, 28 showed evidence of anorectal atresia on US scans, and 22 of those with anorectal atresia had additional anomalies. Six cases of isolated anorectal atresia were successfully detected during the preclusive prenatal US scans. Four cases of a low imperforate anus (including 2 covered anuses) yielded false‐negative results, indicating a diagnostic rate of 87.5% (28 of 32). The normal appearance of the fetal rectum and anal canal ruled out anorectal atresia in 30 fetuses with a dilated colon. Additionally, there were 3 false‐positive cases, in which a narrow anal canal was observed. Conclusions Identifying the abnormal appearance or absence of the fetal anal canal and rectum on preclusive US anomaly scans is useful for prenatal diagnosis or exclusion of anorectal atresia, which may help improve the detection of isolated anorectal atresia. Furthermore, a combined evaluation of the longitudinal and axial appearances of the fetal anal canal and rectum can improve diagnostic accuracy.

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Section: Discussionmentioning

confidence: 99%

Prenatal Evaluation for Detection of Anorectal Atresia: Value of Ultrasound

Lin

Chen

et al. 2018

J of Ultrasound Medicine

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“…A completely nonvisualized anal structure is relatively easy to recognize on prenatal sonography, which indicates that the anal sphincter muscles are either aplastic or severely underdeveloped. However, muscular development may vary even in high‐type cases, 18 and small amounts of muscular components can be visible. Our 2 cases that were prenatally diagnosed as low‐type imperforate anuses but confirmed as high types showed a small hypoechoic anal ring and were therefore incorrectly diagnosed as low types.…”

Section: Discussionmentioning

confidence: 99%

Sonographic Determination of Type in a Fetal Imperforate Anus

Lee

Won

Shim

et al. 2016

J of Ultrasound Medicine

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“…Almost all children with these anomalies require pelvic floor surgery in early childhood. In ARM patients, the pelvic floor is hypoplastic [1], and often a fistula is present from the rectum to perineum or to the urogenital tract. Associated anomalies are frequently of urogenital origin, such as hypospadias—present in 26 to 40% of the male ARM patients [2–4]—or of the internal reproductive system in females [5].…”

Section: Introductionmentioning

confidence: 99%

Psychosexual Well-Being After Childhood Surgery for Anorectal Malformation or Hirschsprung's Disease

Hondel

Sloots

Bolt

et al. 2015

The Journal of Sexual Medicine

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Introduction Anorectal malformations (ARMs) and Hirschsprung's disease (HD) are congenital malformations requiring pelvic floor surgery in early childhood, with possible sequelae for psychosexual development. Aims To assess psychosexual well-being in adult ARM and HD patients related to health-related quality of life. Methods Eligible for this cross-sectional two-center study were all patients aged ≥18 years who had been operated for ARM or HD. Exclusion criteria were intellectual disability, comorbidity affecting sexual functioning, and cloacal malformation. Main Outcome Measures Participants completed the International Index of Erectile Functioning, Female Sexual Functioning Index, Female Sexual Distress Scale, Hirschsprung and Anorectal Malformation Quality of Life Questionnaire, and sexual education questionnaire. Results Response rates were 32% and 37% for ARM and HD patients, respectively. We studied 70 participating ARM and 36 HD patients (median age 26 years). We excluded 10 patients with sexual inactivity in the past 4 weeks. Six of 37 men with ARM (16%) reported moderate to severe erectile dysfunction, vs. two of 18 men with HD (11%). Thirteen and 10 of 26 women with ARM (50% and 38%) reported sexual dysfunction or sexual distress, respectively, vs. eight and three of 15 women with HD (53% and 20%). Quality of life and type of malformation or operation were not associated with self-reported psychosexual problems. Addressing sexuality with special interest to the congenital anomaly during medical care was reported to be insufficient by 42 ARM (60%) and 22 HD patients (61%). Conclusion Approximately 13% of male ARM and HD patients reported erectile dysfunction, while 50% female ARM and HD patients reported sexual dysfunction not related to quality of life or type of malformation. Both ARM and HD patients felt a need for better addressing sexual concerns during medical care. Further research is needed to optimize form and timing of this education.

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Wide variation in anal sphincter muscles in cases of high- and intermediate-type male anorectal malformation

Abstract: In both high and intermediate types of ARM, more than 2/3 of cases demonstrated unexpectedly displaced and deformed hypoplastic sphincters. Therefore, we recommend that variations in anal sphincter should be investigated on an individual basis prior to surgery.

Cited by 9 publications

References 9 publications

Prenatal Evaluation for Detection of Anorectal Atresia: Value of Ultrasound

Prenatal Evaluation for Detection of Anorectal Atresia: Value of Ultrasound

Sonographic Determination of Type in a Fetal Imperforate Anus

Psychosexual Well-Being After Childhood Surgery for Anorectal Malformation or Hirschsprung's Disease

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