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.