Small Bowel Bezoar in a Patient With Noonan Syndrome: Report of a Case

Abstract and Introduction

Abstract

Background and Aims: Bezoars occur most commonly in patients with impaired gastrointestinal motility or a history of gastric surgery. Noonan syndrome is associated with gastrointestinal dysfunction and feeding difficulties in children. We report the case of a 64-year-old man with Noonan syndrome who was admitted to the hospital with a small bowel obstruction. An emergency laparotomy was performed and the patient was found to have a phytobezoar of the ileum that had caused edema of the intestinal wall resulting in the obstruction.
Methods/Results: A review of the literature was performed with PubMed using the keywords "Noonan syndrome," "bezoars," and "phytobezoar." Although problems with gastrointestinal motility in Noonan syndrome appear to improve with age, it is conceivable that in this case, abnormal gastrointestinal motility may have predisposed the patient to this condition.
Conclusion: Bezoars are an uncommon but notable cause of small bowel obstruction. This is the first case of a bezoar in a patient with Noonan syndrome reported in the English literature.

Introduction

Noonan syndrome is a multiple congenital anomaly disorder with an incidence estimated at 1 per 1000 to 1 per 2500 live births.^[1] It was first described by Noonan and Ehmke in 1963^[2] in a series of patients with unusual facies, multiple malformations, and congenital heart disease. The other primary associated features of Noonan syndrome include developmental delay, mild mental retardation, short stature, undescended testes, hypotonia, seizure disorders, bleeding diatheses, and congenital cardiac defects. Because of a number of shared clinical features, Noonan syndrome was previously thought to be a form of Turner syndrome, a chromosomal condition that exclusively affects females. However, because individuals with Noonan syndrome have normal karyotypes, it is now recognized to be a separate condition. Although the pathophysiology of Noonan syndrome is not well understood, it is thought to be transmitted in an autosomal dominant fashion with variable expression. Many cases, however, appear to be sporadic. Linkage analysis suggests that the gene for Noonan syndrome may exist on chromosome 12q.^[3]

For centuries, different types of bezoars (accumulations of foreign matter) have been known to occur in the stomach and intestines of animals and humans. Phytobezoars are the most common type, consisting of nondigestible food material such as cellulose, lignin, and fruit tannins. A sticky coagulum is formed on contact with gastric acids due to polymerization of monomeric fruit tannins (especially those occurring in persimmons and citrus fruits).^[4] Trichobezoars are classically described as consisting mostly of hair, and are often noted in psychologically impaired adults and children who also have trichotillomania (a compulsion to pull out one's hair).^[4] Rapunzel's syndrome, due to compulsive hair-chewing, results in the formation of a long-tailed trichobezoar, a documented variant of trichobezoars.^[4] Lactobezoars are most often found in low-birth-weight neonates fed a highly concentrated formula during the first few weeks of life. Milk elements such as casein congeal due to poor neonatal gastrointestinal motility, concentrated formula regimens, and dehydration. Various medications such as nifedipine, cholestyramine, kayexalate, antacids, and objects such as nuts, glue, cement, and shellac have been reported to cause bezoars. All types of bezoars are commonly associated with impaired gastrointestinal motility or previous gastric surgery.^[4]

We report a case of a phytobezoar in a patient with Noonan syndrome. A MEDLINE search of articles published between 1965 and 2006 using the keywords "Noonan syndrome" and "bezoar" or "phytobezoar" revealed no previously reported cases.

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Cite this: Small Bowel Bezoar in a Patient With Noonan Syndrome: Report of a Case - Medscape - Feb 21, 2007.