ISOLATED ANORECTAL MALFORMATION IN TWO SIBLINGS AS CAUSE OF CHRONIC CONSTIPATION. CASE REPORT

Authors

  • Ivette Jimenez MD
  • John A Peralta Universidad Militar Nueva Granada, Hospital Central de la Policía Nacional. Hospital Militar Central. Bogotá D.C, Colombia. https://orcid.org/0000-0002-7809-3732
  • Juan Pablo Luengas Universidad Militar Nueva Granada, Hospital Central de la Policía Nacional. Hospital Militar Central. Bogotá D.C, Colombia. https://orcid.org/0000-0002-2122-8931
  • Rafael Roberto Peña Universidad Militar Nueva Granada, Hospital Central de la Policía Nacional. Hospital Militar Central. Bogotá D.C, Colombia. https://orcid.org/0000-0002-5932-7177
  • Luis Carlos Rincon Universidad Militar Nueva Granada, Hospital Central de la Policía Nacional. Hospital Militar Central. Bogotá D.C, Colombia.

Abstract

Introduction: Anorectal malformations (ARM) are a broad spectrum of congenital malformations. ARMs can be part of a syndromic presentation or can also be sporadic / familial. Constipation has been described as one of the most frequent symptoms leading to the diagnosis of isolated and inadvertent ARM, which increases morbidity and mortality

Case presentation: We present a descriptive study (case report) of two siblings, male and female, with late diagnosis of isolated ARM with perineal fistula. Both patients have had a satisfactory recuperation as expected.

Discussion: The rate of ARM recurrence among siblings and relatives remains unknown given the limited literature reported. The late diagnosis of ARM implies high mortality and morbidity in the short and long term. For this reason, a case of two siblings, a boy, and a girl, with late diagnosis (at 2 and 5 years of age) of ARM with isolated perineal fistula is presented.

Conclusions: In patients with chronic constipation, it is mandatory to rule out ARM. Diagnosis and surgical management can be delayed in cases of isolated non-syndromic ARM. In patients with ARM with perineal or vestibular fistula, multidisciplinary and family consultation should be carried out to rule out recurrence between siblings.

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Published

2023-07-21

How to Cite

Jimenez, I., Peralta, J. A., Luengas, J. P., Peña, R. R., & Rincon, L. C. (2023). ISOLATED ANORECTAL MALFORMATION IN TWO SIBLINGS AS CAUSE OF CHRONIC CONSTIPATION. CASE REPORT. Annals of Mediterranean Surgery, 6(2). Retrieved from https://edicions.uib.cat/ojs/index.php/AMS/article/view/1081

Issue

Vol. 6 No. 2 (2023)

Section

Case Report

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