A 10-year-old boy presented to our outpatient clinic with abdominal pain. He reported recurrent epigastrial pain for the past 3-4 months, which has increased in severity and frequency, thus prompting the parents to seek medical help. The patient also developed diarrhea during the last month prior to presentation. On closer questioning, he described awakening at night with pain, accompanied by sweating and extreme paleness during the painful episodes. The description of the symptoms was alarming, prompting further investigation.
On clinical examination he did not have specific findings: he was pale and his lower abdomen was tender and full. Routine full blood count and biochemistry revealed normal values apart from a slight normocytic anemia, the patient was found to have normal immunoglobulin levels. A subsequent abdominal ultrasound (US) showed an ~20-22 mm-wide band-like cystic mass stretching in front of the right psoas muscle and above the bladder. A follow-up US 10 days later, by the same radiologist identified a gross increase in the size of the abdominal mass, now dislocating the bowels and causing an obstruction (Figure 1). In order to specify the exact location, origin and nature of the mass, an abdominal MRI scan was performed. Based on the imaging, we had a strong suspicion of dealing with a solid tumor originating from the retroperitoneal space or the mesenteries (Figure 2).
Pediatric surgeons performed a laparotomy. They located the mass to be in the middle part of the ileum and the attaching mesentery containing numerous cysts with localized infiltration of the bowel wall. A 30 cm long, macroscopically abnormal part of the ileum was resected. Pathologic examination was consistent with intestinal lymphangiectasia based on the dilated lymphatic system/vessels in the submucosa, subserosa and even in lamina propria (Figure 3). The edges of the resection line revealed normal histologic features.
Secondary causes of intestinal lymphangiectasia (IL) (eg, cardiac conditions, lymphoma, mesenteric tuberculosis, etc) or associated conditions described in the literature (Noonan, Turner, Klippel-Trenaunay, Hennekam, von Recklinghausen syndrome) were not identified. Family history was negative for PIL and also free of inherited disorders.
The early postoperative period was uneventful, and there were no complications. The patient's symptoms subsided, with no further signs of PIL during follow-ups for the next 4 years; he had only occasional abdominal symptoms for which he was started on proton pump inhibitor (PPI). Albumin and immunoglobulin levels stayed within normal range for his age. Serial abdominal USs have not revealed any signs of recurrence up to date.