Imperforate anus in a patient with Down Syndrome: case report

Introduction: Down syndrome is the most common chromosomal abnormality identified in the world. In addition to mental impairment, other comorbidities are associated with the syndrome, among which malformations of the gastrointestinal tract can be mentioned. Imperforate anus is an anorectal deformity of multifactorial etiology that may be associated with chromosomal or Mendelian alterations. The various levels of obstruction in this type of anomaly can impede the flow of feces from the digestive tract, leading to complications such as abdominal distension, severe infections, intestinal perforation, peritonitis and death in the absence of intervention. About 40% of newborns with anorectal malformations have other associated conditions, including Down Syndrome. Objective: This report was proposed with the aim of describing the case of a patient being followed up at the Genetic Counseling Outpatient Clinic of Hospital Emílio Carlos in the city of Catanduva-SP, with Down syndrome, anal imperforation and congenital clubfoot diagnosed in the neonatal period and the treatments performed after diagnoses. Method: The case description was developed after the approval of the Ethics Committee on Research in Human Beings according to the acceptance number 5.105.523. Patient data were obtained from face-to-face consultations at the outpatient clinic and the results of exams and other clinical and/or surgical procedures performed by other medical specialties referred to in the patient's medical record. Results: Male patient, twin pregnancy at 36 weeks, complicated by pre-eclampsia, born by cesarean section, weighing 1,015g, 43 cm, head circumference 30 cm, Apgar scores 9 and 10 at 1 and 5 minutes, respectively. The mother, 32 years old, smoker, G3P3A0, had 6 prenatal consultations, the last obstetrical ultrasound showed no alterations. After birth, she was referred to the Neonatal Unit of the same hospital in a heated incubator. Physical examination revealed phenotypic characteristics compatible with Down Syndrome, associated with anal imperforation and congenital clubfoot on the left, in addition to an atrial septal defect of 2.2 mm. Laparotomy was performed on the same day of birth with a temporary colostomy, in order to allow the excretion of feces, the total abdomen ultrasound was normal. After hospital discharge, he was referred to the Genetic Counseling and Orthopedics outpatient clinics. At the outpatient clinic, the physical examination revealed a globular, normotensive, painless abdomen on superficial and deep palpation, with bowel sounds present, the presence of a colostomy bag on the left with yellowish, pasty stools and left foot in the supine position and flexible and right cavus without alterations. Initially, the left foot was considered physiologically crooked, which is why he was referred for physical therapy. At 2 years and 6 months, he underwent sagittal anorectoplasty with progressive dilation with 5-6-7 candles, without intercurrences. He currently has postural improvement in the position of the left foot and is waiting for imaging tests on the hip and lower limbs, as the foot still presents anatomical changes. The reversal of the colostomy is expected to be performed 4 months after the anoretoplasty. Conclusion: The present study demonstrates that carrying out an early diagnosis is essential for carrying out the necessary procedures for a satisfactory prognosis.