Congenital intestinal lymphangiectasia: report of a case

Congenital intestinal lymphangiectasia is a rare protein-losing enteropathy that usually affects children and young adults. Major symptoms include peripheral edema, mild non-bloody diarrhea, and chylous effusions that may develop during the course of the disease. In this disorder intestinal lymphatic vessels show fibrous occlusions that lead to pressure elevation of the lymphatic flow and rupture of the small lymphatic vessels. Transudation of lymph fluid into the different layers of the intestinal wall and lumen then occurs

[Step by step clinical diagnosis]

A27-year-old man came to the emergency room with a severe hematemesis and melena. BP: 85/40 mmHg; HR: 130 bpm. Urgent endoscopy revealed nonhemorrhagic esophageal varices, duodenal bulb's irregularity and hemorrhagic duodenitis. Abdominal US showed asceitis, splenomegaly and a mass with hypoechogenicity in the right lobe of the liver. Liver function tests were normal. Analysis of asceitic fluid revealed a high gradient fluid with lymphocytic predominance. Abdominal CT scan visualized a mass in the duodenal wall, a calcified mass in the left kidney and para-aortic lymphadenopathies. Afterwards, brain CT scan was performed due to two times of generalized convulsions that showed a region of hypodensity at the right frontal lobe. After approximate control of bleeding, endoscopy performed once more and chronic granulomatosis inflammation was identified in deep duodenal biopsies. On suspicion of tuberculous peritonitis, laparascopy was performed which revealed milliary granules on visceral and parietal peritoneum. Non-Caseating granulomas which confirmed tuberculosis was identified in biopsies from these lesions. Starting the antituberculosis treatment, the patient recovered gradually, his kidney calcifications became intensified and the lesions of duodenum, liver and brain got calcified. On the basis of these findings, the patient was diagnosed as a case of tuberculosis with multiorgan involvement who had come with massive gastrointestinal bleeding as first presentation; this makes the case particular and remarkable. Tuberculous peritonitis is a form of abdominal tuberculosis that can involve the omentum, intestinal tract, spleen, and fallopian tubes in addition to the parietal and visceral peritoneum. The onset of disease is usually insidious starting with fever, night sweats, abdominal pain and weight loss. Asceites is present in many cases. Laboratory and radiographic studies are rarely diagnostic. If tuberculosis is suspect, laparascopy and biopsy from the parietal peritoneum is the best diagnostic approach with nearly 100% sensitivity in detecting tuberculous peritonitis. Duodenal tuberculosis is rare. The most common clinical symptoms are obstruction with pain, nausea and vomiting or nonspecific dyspeptic symptoms. In about 80% of cases, suspected as a case of tuberculosis, endoscopy and biopsies reveal abnormalities that are suggestive of tuberculosis, but only about 45% are truly diagnostic revealing caseating granulomas or acid fast bacilli. The most common cause of hepatic granulomas is tuberculosis worldwide. Rarely, patients with multiple tubercular granulomas of the liver have clinically significant liver disease. Tuberculosis of the liver and peritoneum may coexist. Tuberculosis may involve any portion of the genitourinary tract. Urinary frequency, dysuria, hematuria and flank pain are common presentations. However, patients may be asymptomatic and diagnosis is made only when severe destructive lesions of the kidneys have developed. Calcifications and ureteral strictures are suggestive findings. Intracranial tuberculomas are space-occuping lesions that may manifest with seizures. They are most frequently multiple, but can also be single. When diagnosis is certain, chemotherapy should be applied before resorting to surgery