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An unusual cause of protein losing enteropathy in a 2.5-year-old girl: meso-intestinal fibrosis.

ABSTRACT: Introduction Protein losing enteropathy is a symptom characterized by loss of protein in intestines resulting in low protein levels in serum and generalized edema. Several causes are reported for this condition. Hereby we report an as yet unreported cause of protein losing enteropathy that we named meso-intestinal fibrosis. Case Report A 2.5-year-old girl referred with features of partial intestinal obstruction and underwent laparotomy. She had history of protein losing enteropathy since 16 months of age with generalized edema and received albumin every other week. Workup of protein losing enteropathy was inconclusive and only a histology report denoted increase in eosinophils in lamina propria of small intestine and hypoallergenic diet was started for her, but no significant response was noted. Laparotomy revealed lace-like white areas in meso of small intestine and intestinal wall was firm in palpation in some areas. Biopsy was taken from these sites and histology revealed severe fibrosis of meso overlying muscularis propria and also patchy fibrosis of intestinal meso led to severe lymphangiectasis in submucosa of small intestine. Discussion Secondary lymphangiectasis due to obstruction of lymphatic flow is mentioned as cause of protein losing enteropathy. Meso-intestinal fibrosis seen in this case that led to secondary lymphangiectasis and also motility disorder has not been reported as yet.

SUBMITTER: Mahjoub F

PROVIDER: S-EPMC4336048 | biostudies-other | 2014 Jun

REPOSITORIES: biostudies-other

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Project description:BackgroundAbernethy malformation, also known as congenital extrahepatic portosystemic shunt, is an uncommon malformation resulting from aberrant development of the portal venous system. Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene. It mainly affects the exocrine glands of the respiratory, digestive and reproductive systems. It is considered extremely rare in the Asian population. We present a clinical case involving a pediatric patient of Asian descent who was diagnosed with Abernethy malformation and CF.Case summaryA 12-year-old girl presented with a medical history of recurring respiratory infections and hemoptysis, and chest computed tomography (CT) showed bronchiectasis. Whole exome sequencing was performed for the patient, yielding findings that revealed a compound heterozygous variant of the CFTR gene: c.233_c.234insT/p.Trp79fsTer3 (maternal origin); c.2909G>A/p.Gly970Asp (paternal origin). CF was diagnosed. The physician's attention was drawn to the presence of splenomegaly during disease progression. Abdominal enhanced CT revealed splenomegaly, compression of the left kidney, and multiple tortuous dilated vascular shadows were seen at the splenic hilum, which flowed back into the left renal vein and portal vein, suggesting Abernethy malformation type II. Intraoperatively, the abnormal blood flow was seen to merge into the inferior vena cava through the left renal vein without hepatic processing, and the pathology of liver biopsy showed hypoplastic, dilated or absent portal vein branches, both of which supported the diagnosis of Abernethy malformation type II. This represents the initial documented instance of Abernethy malformation accompanied by a CFTR gene mutation in the existing body of literature.ConclusionCoexisting Abernethy malformation and CF are rare. Detailed medical history information, abdominal enhanced CT, venography and genetic testing contribute to diagnosis as well as differential diagnosis.

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An unusual cause of protein losing enteropathy in a 2.5-year-old girl: meso-intestinal fibrosis.

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