CASE REPORT:
A 4-year-old male admitted at the University Hospital with intestinal constipation since birth, remaining up to 7 days without defecation followed by abdominal distension and soiling. After the first year of life, there was a worsening in the clinical scenario with an increase in the number of days without bowel movements. At another service, the patient had performed anoplasty and several sessions of anal dilatation. On physical examination, the abdomen was slightly distended, painless and without palpable masses. In rectal examination, presence of a large amount of softened stool. Initially, it was prescribed to the patient: dietary orientation, rectal enemas with sorbitol and sodium lauryl sulfate solution and polyethylene glycol orally. After 2 months of treatment, the patient returns with partial improvement of the condition, but maintaining soiling and a palpable fecaloma. The patient was then hospitalized and submitted to rectal enema with lactated ringer and 12% glycerin solution. The fecaloma was manually removed under general anesthesia. Barium enema confirmed megarectum. Surgical rectal biopsy was performed and no changes were observed in ganglion cells In addition, anorectal manometry was normal. Due to the persistence of fecaloma formation, a double-barrel colostomy was performed. Due to the persistence of fecaloma, even with the colostomy, cystic fibrosis was investigated. The sweat test was borderline and a therapeutic trial with acetylcysteine and pancrelipase was initiated; besides performing the genetic test for cystic fibrosis. The test identified the variation p.Leu1156Phe G>T, a variant of the CFTR gene of undetermined meaning.