Introduction:
Primary intestinal lymphangiectasia (PIL) is a very rare disorder usually diagnosed before the third year of life or later in adulthood, presenting with pitting edema, hypoproteinemia and low immunoglobulin levels. The location and the extent of the affected bowel greatly influence the clinical manifestation. The localized or segmental form of PIL is extremely rare with only five pediatric cases reported worldwide.
Case presentation:
A 10 year-old Caucasian boy presented with 3 months history of recurrent abdominal pain and a 1 month history of diarrhea. An ultrasound scan was performed on two separate occasions 10 days apart, revealing a growing cystic mass on the right side of the abdomen, in front of the psoas muscle. Subsequently an MRI scan confirmed that the mass originated from the mesenteries and infiltrates a short segment of the small bowel. Surgical resection of the affected segment was performed. Histopathological examination of the removed segment of ileum was consistent with intestinal lymphangiectasia. We could not identify any associated genetic syndromes or any other conditions that could have caused secondary intestinal lymphangiectasia. The patient's recovery from surgery was uneventful and no recurrence was observed in the following 4 years.
Conclusion:
Despite being a benign condition, mortality of PIL can be as high as 13% due to the difficulties associated with the management of the disease. PIL should be considered as a rare but potential cause for an abdominal mass, even in the older child, when cystic mesenterial involvement might be seen on ultrasound or MRI. In selected cases of PIL affecting only a short segment of the bowel or following unsuccessful conservative treatment, surgical resection of the affected bowel segment can be curative.