Symptoma

Anorectal Malformation

Delayed patient presentation is an important causative factor. A 2.5-kg neonate presented 72 hours after birth with abdominal distention and absent anal opening with meconium pearls. An abdominal X-ray revealed the presence of free gas. [pediatr-neonatol.com]

A patient with persistent cloaca presents with a single perineal orifice; a lump representing distended vagina (hydrocolpos) may be present in up to 50% of patients [Figure 2].[7] In our study, persistent cloaca was present in 6.07% (13) of patients, [mjdrdypv.org]

Here we present a case of an adult female who was neglected since childhood and presented with congenital low type of anorectal malformation, we performed anal transposition which gave her a good outcome. 2. [hindawi.com]

We present two patients managed in our centre to highlight the challenges of management of this uncommon coexistence. [afrjpaedsurg.org]

Relevant statistical analysis was done and the results presented in tables and graphs. Results: Six patients (6%) presented at early neonatal age (before the age of 4 days) and 14 (14%) presented between 4 days and one month. [ajol.info]

  • Recurrent Urinary Tract Infection

    Colostomy Depending on the type of malformation, a colostomy will allow decompression of the intestine, protection of a repaired perineum, renal protection from recurrent urinary tract infections and allow performing a distal colostogram to establish [hamdanjournal.org]

    Loop colostomies are also not advisable in patients with ARM, because they may allow spillage into the distal limb with the possibility of recurrent urinary tract infections (66) and they are more likely to prolapse (70). [frontiersin.org]

  • Gangrene

    The downstream occlusion results in proximal intestinal dilatation and increase in intraluminal pressure resulting in tension gangrene. [pediatr-neonatol.com]

  • Poor Feeding

    We present a case of newborn, day 4 of life, who did not pass meconium since birth, had abdominal distension, vomiting, poor feeding and lethargy since last 2 days. [nepjol.info]

  • Dysostosis

    […] syndrome Pallister-Hall syndrome Townes-Brock syndrome Ulnar-mammary syndrome Okihiro syndrome Rieger syndrome Thanatophoric dwarfism Hirschsprung disease Feingold syndrome Kabuki syndrome Optitz BBB/G syndrome Johanson-Blizzard syndrome Spondylocostal dysostosis [healthjade.net]

  • Erythema

    There was no erythema or edema of the anterior abdominal wall. Perineal examination revealed the presence of meconium pearls and absent anal opening, suggestive of low ARM, as shown in Figure 1. [pediatr-neonatol.com]

  • Social Isolation

    The most common sequelae, when not treated properly, are faecal incontinence, urinary incontinence and sexual disfucntion.[2] As a consequence, social isolation can lead to depression and mental health issues. [hamdanjournal.org]

  • Overflow Incontinence

    Failure to avoid constipation can result in megarectum and megasigmoid, and can lead to fecal impaction and overflow incontinence. The origin of the problem of constipation is unknown. [ojrd.biomedcentral.com]

  • Neglect

    Here we present a case of an adult female who was neglected since childhood and presented with congenital low type of anorectal malformation, we performed anal transposition which gave her a good outcome. 2. [hindawi.com]

    Successful management in neglected cases of adult anorectal malformation. Singapore Med J 2009; 50(8): e280-e282. . Holschneider AM, Hutson JM. Anorectal malformations in children embryology, diagnosis, surgical treatment, follow-up. [romj.org]

    The risk of tumor development in these patients should not be neglected and colleagues from adult care should be aware of the possibility this occurs in their practice. [springerplus.springeropen.com]

  • Lethargy

    We present a case of newborn, day 4 of life, who did not pass meconium since birth, had abdominal distension, vomiting, poor feeding and lethargy since last 2 days. [nepjol.info]

While anorectal malformations can occur as an isolated finding, they require additional workup as 60% of patients have an associated anomaly, and there is a correlation of anorectal malformations with the VACTERL defects (vertebral, anorectal, cardiac [statpearls.com]

Preliminary report on the International Conference for the Development of Standards for the Treatment of Anorectal Malformations. J Pediatr Surg. 2005;40:1521-6. Hedlund H, Pena A, Rodriguez G, Maza J. [ijsurgery.com]

With recognition and aggressive, proactive treatment, we have found that these morbidities can be reduced. [jpedsurg.org]

Osteopathic manipulations including counter-strain treatment of the pelvic floor and balance and hold treatment of the sacrococcygeal ligaments. [karger.com]

Posterior sagittal anorectoplasty (PSARP) is now accepted as a standard treatment in children, but there is very little literature guiding an ideal treatment of anorectal malformation in adults. [hindawi.com]

The ultimate judgement regarding a particular clinical procedure or treatment must be made by the clinician in the light of the clinical data presented by the patient and the diagnostic or treatment options available. [uhs.nhs.uk]

If this is an isolated anomaly, the prognosis is excellent. For children with imperforate anus, a colostomy is often needed during the newborn period, but once the final surgery corrects the defect, the prognosis is likewise excellent. [drgreene.com]

Follow-up study was required to evaluate anal function after the operation and Logistic regression analysis was used for analyzing the influencing factors of prognosis. [tandfonline.com]

especially in the initial years will ensure an excellent prognosis later.[27] Rectourethral fistula This is the most common anorectal malformation in males. [hamdanjournal.org]

Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. [ojrd.biomedcentral.com]

These studies help to establish initial treatment and prognosis. How is ARM treated? All children with an ARM need at least one operation called an anorectoplasty or “pull-through”. [chp.edu]

INCIDENCE & ETIOLOGY: Minor abnormalities (1 in 500 live births) Major abnormalities (1 in 5000 live births) Boys commonly affected than girls. Etiology is unclear, Mutation in the genes responsible for this disorder. 4. [slideshare.net]

Etiology The etiology remains unclear and is likely multifactorial. Familial cases have been described. [orpha.net]

Chromosomal anomalies in the etiology of anorectal malformations: A review. Am J Med Genet Part A. 2011;155:2692–704. [nature.com]

Hirschsprung's disease: A search for etiology. Semin Pediatr Surg 1998;7:140-7. [PUBMED] 10. Taquchi T, Suita S, Hirata Y, Yamada T, Toyohara T. [afrjpaedsurg.org]

Etiology While a specific cause of anorectal malformations is not known, it is very likely that genetic factors play a role in their development. [statpearls.com]

Summary Epidemiology They occur in approximately 1 in 5000 live births. Clinical description Defects range from mild anal anomalies to complex cloacal malformations. [orpha.net]

Author information Affiliations Genetic Epidemiology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT, 84108, USA Craig C. Teerlink & Lisa A. [nature.com]

Epidemiology: Anorectal malformations (ARM) occurs in 1 baby in every 5,000 live births. It is equally seen in boys and girls. Figure 1: Picture of a baby's bottom without an anal opening. Picture courtesy of MJArca 11/2016. [eapsa.org]

Rittler MPaz JECastilla EE VACTERL association, epidemiologic definition and delineation. Am J Med Genet. 1996;63529- 536Google ScholarCrossref [jamanetwork.com]

An epidemiological study of Hirschsprung's disease and additional anomalies. Acta Paediatr 1994;83:68. 2. Stephen FD, Smith ED. Anorectal malformations in children. Chicago: Year Book Publishers; 1971. 3. Kiesewetter WB, Sukarochana K, Sieber WB. [afrjpaedsurg.org]

PATHOPHYSIOLOGY: Resulting in Anorectal Anomaly Union of anus and rectum does not occur If the membrane that separates anus and rectum is not absorbed By the 7th week of gestation membrane separates the rectum from anus Genitourinary tract originates [slideshare.net]

Pathophysiology Several theories address the pathophysiology and development of anorectal malformations. [statpearls.com]

Pathophysiology of chronic constipation on anorectal malformations. Long-term results and preliminary anatomical investigations.Eur J Pediatr Surg. 2001; 11: 305-310 Stephens F. [jpedsurg.org]

Better understanding of the pathophysiology of perforation in ARM and early surgical decompression of the obstructed colon can be expected to reduce mortality in future. 13 Raveenthiran V. [pediatr-neonatol.com]

Pathophysiology The embryogenesis of these malformations remains unclear. [emedicine.medscape.com]

This should be preventable by passing the dilator daily for the first few months of life. In the longer term constipation may be a problem but this can usually be managed by diet or medication. [uhs.nhs.uk]

How can anorectal malformations be prevented? Prevention is not generally effective. Anal stenosis, Imperforate anus, Recto-urethral fistula, Rectovesical fistula. [drgreene.com]

In this case anal dilation will be all that’s necessary and surgery can be prevented, unless the anus is in the wrong place. [pullthrough.org]

You will need to maintain good skin care in the diaper area or around the ostomy to prevent skin breakdown. If you child has an ostomy, you will be provided with appropriate supplies to care for this area. [luriechildrens.org]

Anal dilations will also be necessary to prevent narrowing of the anal passage. Lack of rectal connection: A series of procedures may be required to create an appropriate connection. [mottchildren.org]