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A female infant was born in good condition at term. Meconium was passed within the first 48 hours of life. At 3 weeks of age, she presented with constipation and a presumed isolated buttock abscess requiring drainage. Inspection of the perianal area was felt to be normal. A large volume of pus was drained and she was discharged home on oral antibiotics.
Question 1
Which procedure may have been most appropriate to offer an initial clue to her diagnosis?
Abdominal X-ray.
Digital rectal examination.
Perianal swab for streptococcal infection.
Sweat test.
Ultrasound scan of the abdomen.
At 6 months of age, she presented with a second abscess, constipation and poor weight gain.
Question 2
What is the most likely diagnosis?
Congenital anorectal anomaly.
Cow’s milk protein allergy.
Hirschsprung’s disease.
Immunodeficiency disorder.
Infantile perianal Crohn’s disease.
Poor weight gain persisted and she re-presented acutely unwell at 9 months of age with a ruptured perianal abscess. Given these recurrent abscesses, with …
Footnotes
Contributors PM and CH were involved with the draft manuscript and review of literature. DM, MMC, JM and AT were involved in the management of the patient. AT and MMC provided critical review of the drafts. PM and AT carried out the final review.
Competing interests None declared.
Patient consent Parental/guardian consent obtained.
Provenance and peer review Not commissioned; externally peer reviewed.