The parents brought in their 10-month-old boy, who present with a history of excessive straining when trying to have a bowel movement. On physical exam you clearly see he has developed a rectal prolapse.
What is your next step in management?
Correct Answer B: Rectal prolapse occurs in 20% of patients with cystic fibrosis who are aged 6 months to 3 years. The appropriate intervention at this point is to order a sweat chloride test to see if this child has cystic fibrosis.
Rectal prolapse should be viewed as a symptom of an underlying condition rather than a discrete disease entity. Potential causes are increased intraabdominal pressure, diarrheal and neoplastic diseases, malnutrition, and conditions predisposing to pelvic floor weakness. Its strong association with cystic fibrosis makes the sweat test mandatory for infants and children with recurrent rectal prolapse.
The treatment of rectal prolapse is mainly conservative and is directed at the underlying conditions. Surgical intervention may be required for recurrent rectal prolapse refractory to conservative measures.
At 36 hours of age a full-term infant has not yet passed meconium. Physical examination reveals jaundice and abdominal distention. Radiographs of the abdomen show dilated loops of bowel. A meconium plug is passed after rectal examination.
Which of the following would be the most definitive diagnostic test to order?
Correct Answer C: Cystic fibrosis (CF) is an inherited disease of the exocrine glands affecting primarily the GI and respiratory systems. It leads to COPD, exocrine pancreatic insufficiency, and abnormally high sweat electrolytes. Diagnosis is by sweat test or identification of 2 cystic fibrosis mutations in patients with characteristic symptoms. Treatment is supportive through aggressive interdisciplinary care.
Meconium ileus due to obstruction of the ileum by viscid meconium may be the earliest sign and is present in 15 to 20% of affected neonates. It is often associated with volvulus, perforation, or atresia and, with rare exceptions, is followed by other CF signs. CF also may be associated with delayed neonatal passage of meconium and with the meconium plug syndrome (a transient form of distal intestinal obstruction secondary to one or more plugs of inspissated meconium in the anus or colon).
A 7-year-old male with recurrent sinusitis has difficulty breathing through his nose. He has had chronic diarrhea and his weight is at the 5th percentile. Nasal polyps are noted on examination in the form of grayish pale masses in both nares. No nasal purulence or odor is present.
Which one of the following tests should you order?
Correct Answer E: This child has chronic diarrhea, recurrent sinusitis, and nasal polyps, and is underweight. Nasal polyps tend to occur more often in adult males, with the prevalence increasing in both sexes after age 50. Any child 12 years or younger who presents with nasal polyps should be suspected of having cystic fibrosis until proven otherwise. A sweat chloride test, along with a history and clinical examination, is necessary to evaluate this possibility. Nasal polyps are found in 1% of the normal population, but a full 18% of those with cystic fibrosis are afflicted. There is no association of polyps with Wilson’s disease, sarcoidosis, or emphysema, so serum ceruloplasmin, angiotensin-converting, and alpha-1-antitrypsin levels would not be useful. An erythrocyte sedimentation rate likewise would yield limited information.
Cystic fibrosis may present in the neonatal period or in adults.
Which of the following are possible complications associated with cystic fibrosis?
Correct Answer E:
A. Rectal prolapse occurs in up to 20% of patients with cystic fibrosis. It is related to the passage of large bulky stools from pancreatic insufficiency and improves when patients are placed on pancreatic enzyme replacement.
B. Protein-calorie malnutrition or failure to thrive occurs because of fat malabsorption and the need for increased caloric intake. Some patients need 120-140% of daily-recommended caloric intake to grow and gain weight.
C. Nasal polyps are common in cystic fibrosis patients with chronic sinopulmonary disease and may be seen in young infants.
D. Almost all post pubertal males are infertile secondary to obstructive azoospermia.
A child’s sweat chloride test value is 65 mmol/L (normal < 60 mmol/L) on two occasions.
He will very likely suffer from:
Correct Answer D: Cystic fibrosis (CF) can affect a multitude of organ systems (GI, MSK, Endocrine, Cardiovascular, Respiratory and GU). Its hallmark manifestations are poor growth, difficulty breathing & lung infections (due to decreased mucociliary clearance and inflammation); infertility (especially in males due to a congenital absence of the vas deferens) and gastrointestinal malabsorption (due to insufficient pancreatic enzymes).
CF is caused by a mutation in the cystic fibrosis transmembrane conductance regulator gene which codes for a membrane transport protein involved in controlling the movement of halogens (such as chloride) in and out of cells.
Along with the sweat chloride test, investigations include: CXR, PFT’s and ABG’s. Management of CF involves respiratory rehabilitation, bronchodilation, antibiotics, mucolytics, and lung transplant.
Mild gastrointestinal inflammation (a) and profuse perspiration or hyperhidrosis (b) can manifest from a number of etiologies. Chest pain, dyspnea and Horner’s syndrome (c) are suggestive of a mediastinal mass. Peripheral edema, eosinophilia and cardiomyopathy (e) are characteristic of Loeffler’s endocarditis.
PEARL: The hallmark systems affected by CF are the Respiratory, GI and Reproductive systems.
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