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Constipation, failure to thrive and recurrent abscesses: getting to the bottom of an unusual complaint


Question 1 Which procedure may have been most appropriate to offer an initial clue to her diagnosis? 

  1. Abdominal X-ray. 

  2. Digital rectal examination. 

  3. Perianal swab for streptococcal infection. 

  4. Sweat test. 

  5. Ultrasound scan of the abdomen.

Question 1

At 6 months of age, she presented with a second abscess, constipation and poor weight gain.

Question 2 What is the most likely diagnosis? 

  1. Congenital anorectal anomaly. 

  2. Cow’s milk protein allergy. 

  3. Hirschsprung’s disease. 

  4. Immunodeficiency disorder. 

  5. 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.

Figure 1

Sagittal T2-weighted MRI showing presacral mass, which measured approximately 20×20×19 mm.

Question 3 The combination of congenital anorectal stenosis, anterior sacral defect and a presacral mass is also known as: 

  1. CHARGE syndrome.

  2. Currarino syndrome. 

  3. Klippel-Feil syndrome. 

  4. Opitz syndrome. 

  5. VACTERL  (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) association.

Question 3

Answers can be found on page 2.

  • congenital abnorm
  • gastroenterology
  • imaging
  • paediatric surgery
  • constipation
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