Question 1 Which procedure may have been most appropriate to offer an initial clue to her diagnosis?
Digital rectal examination.
Perianal swab for streptococcal infection.
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.
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 associated failure to thrive and constipation, further investigations were arranged. MRI scan of the abdomen, pelvis and spine (figure 1) identified a heterogeneous presacral mass with fusion of the distal sacral segments.
Question 3 The combination of congenital anorectal stenosis, anterior sacral defect and a presacral mass is also known as:
VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) association.
Answers can be found on page 2.
- congenital abnorm
- paediatric surgery
Statistics from Altmetric.com
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.
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.