Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: A new syndrome

Pelletier, Véronique; Galeano, Narmer F.; Brochu, Pierre; Morin, Claude; Weber, Andrée; Roy, Claude

doi:10.1016/s0022-3476(86)80769-7

Cited by 46 publications

(60 citation statements)

References 12 publications

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“…Moreover, they suggest CDGS 1b as a unifying diagnosis for the patients described previously by Pelletier et al 9 The incidence of CDGS 1b is unknown; further study of PMI deficiency should shed light on this issue. As PMI deficiency is more widely considered and diagnosed, it will be of extreme interest to characterize the nature of the associated liver disease and assess the therapeutic efficacy of oral mannose.…”

Section: Commentsmentioning

confidence: 70%

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Congenital hepatic fibrosis?Is it really a matter of ?a spoonful of sugar??

Schwarzenberg¹

1999

Hepatology

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Three siblings suffered from an unusual disorder of cyclic vomiting and congenital hepatic fibrosis. Serum transferrin isoelectric focusing showed increased asialo-and disialotransferrin isoforms as seen in the carbohydrate-deficient glycoprotein (CDG) syndrome type I. Phosphomannomutase, which is deficient in most patients with type I CDG syndrome, was found to be normal in all three patients. Structural analysis of serum transferrin revealed nonglycosylated, hypoglycosylated, and normoglycosylated transferrin molecules. These findings suggested a defect in the early glycosylation pathway. Phosphomannose isomerase was found to be deficient and the defect was present in leucocytes, fibroblasts, and liver tissue. Phosphomannose isomerase deficiency appears to be a novel glycosylation disorder, which is biochemically indistinguishable from CDG syndrome type I. However, the clinical presentation is entirely different.

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Section: Commentsmentioning

confidence: 70%

“…8 As noted in one of the articles, these patients resemble 4 infants described by Pelletier et al, in 1985. 9 These infants had secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis. Thrombotic episodes were described in 1 infant in this report.…”

Section: Commentsmentioning

confidence: 99%

Congenital hepatic fibrosis?Is it really a matter of ?a spoonful of sugar??

Schwarzenberg¹

1999

Hepatology

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“…The MPI gene spans 5 kb of gDNA and contains 8 exons (33,34). In the familial protein-losing enteropathy with hepatic fibrosis originally reported from Quebec, Canada in siblings with the Saguenay-Lac St-Jean (SLSJ) syndrome (35), the heterozygous Arg295His missense mutation (due to a 884GϾA transition in the MPI gene) has been found in both parents (36). This proves that this familial disorder is a mild variant of CDG-Ib.…”

Section: Leroymentioning

confidence: 71%

Congenital Disorders of N-Glycosylation Including Diseases Associated With O- as Well as N-Glycosylation Defects

Leroy

2006

Pediatr Res

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“…A rare but well recognized association with IL is Turner syndrome [6]; the chromosomal studies of two of our patients were normal. Other rare associations of IL are secretory diarrhea, enterocolitis cystica, and congenital hepatic fibrosis [12]. IL is also associated with aplasia cutis congenita [13].…”

Section: Discussionmentioning

confidence: 99%

Infantile Intestinal Lymphangiectasia and Chylous Ascites in Saudi Arabia

Abdullah

Yohannan

et al. 1993

Ann Saudi Med

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Intestinal lymphangiectasia (IL) was first described by Waldman in 1966 [1]. It is characterized by proteinlosing enteropathy, hypoalbuminemia, hypoproteinemic edema and lymphopenia [2]. It is a rare condition. In one large study of 742 small intestinal biopsies done for various small intestinal diseases [3], only three children had intestinal lymphangiectasia. In 1991, Nazer et al reported three cases of intestinal lymphangiectasia which were masquerading as celiac disease [4]. The etiology is unknown, but it may be congenital, particularly if it occurs in early life [5].The aim of this paper is to alert pediatricians to the possibility of IL in children who present with protracted diarrhea, edema and chylous ascites. Case ReportsCase 1: A three-year-old Saudi female was originally referred to the hospital at the age of six months for investigation of persistent abdominal distention and generalized edema which were noted at birth. She is the first child of non-consanguineous parents.On examination, her weight was 6.15 kg (tenth percentile), height 60 cm (less than third percentile), and head circumference 41 cm (less than third percentile). She had generalized pitting edema and massive ascites. Other system examination was normal. Laboratory investigations showed normal CBC, serum protein 35 g/L (N 60-80 g/L), albumin 20 g/L (N35-50 g/L), normal serum immunoglobulin, normal female karyotype, and urine was free of protein. The macroscopic appearance of the peritoneal paracentesis showed whitish milky aspirate which is consistent with chylous ascites.The combination of generalized edema, chylous ascites, hypoproteinemia and hypoalbuminemia in the presence of normal urinalysis and normal liver enzymes alerted us to the possibility of intestinal lymphangiectasia, which was confirmed by small bowel biopsy ( Figure 1). The patient was started on a diet composed of medium chain triglyceride 1 g/kg/day, pregestimil milk and fat soluble vitamins. The edema and ascites improved. She was discharged four weeks later and at discharge, her weight was 5.5 kg.At the age of 24 months, she was readmitted for progressive abdominal distention and generalized edema for which she was subjected to exploratory laparotomy after a trial of medical therapy; at laparotomy, no surgical cause of lymphatic leak was found. Postoperatively, she was treated again with low fat diet and medium chain triglyceride and fat soluble vitamin supplements. At the age of three years, her total T cell count was low (42%), helper-to-killer T cell ratio was low (less than 23%), other T cell and B cell numeration was normal. Isotope splenic function test showed a hypofunctioning spleen. She was given pneumococcal vaccine and she is thriving. Case 2: A one-year-old female sibling of Case 1 was noticed to have abdominal distention from the age of nine days and was seen at our hospital. She had a history of protracted diarrhea with foul-smelling stool. On examination, her weight, height, and head circumference were 4.6 kg, 55 cm, and 38.5 cm respectively, all o...

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Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: A new syndrome

Cited by 46 publications

References 12 publications

Congenital hepatic fibrosis?Is it really a matter of ?a spoonful of sugar??

Congenital hepatic fibrosis?Is it really a matter of ?a spoonful of sugar??

Congenital Disorders of N-Glycosylation Including Diseases Associated With O- as Well as N-Glycosylation Defects

Infantile Intestinal Lymphangiectasia and Chylous Ascites in Saudi Arabia

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