1. Avery GB, Villacivencio O, Lilly JR, Randolph JG.

Intractable diarrhea in early infancy. Pediatrics 1968; 41: 712-722.

Ricour C, Navarro J, Frederich A et al. La diarrhée grave rebelle du nourrisson (à propos de 84 observations). Arch Fr Pediat 1977; 34: 44-59.

  1. Guarino A, Spagnulo MI, Russo S et al. Etiology and 24 risk factors of severe and protracted diarrhea. J Pediatr Gastroenterol Nutr 1995; 20: 173-178.
  2. Catassi C, Fabiani E, Spagnuolo MI et al. Severe and protracted diarrhea: results of the 3-year SIGEP multi- 25 center survey. J Pediatr Gastroenterol Nutr 1999; 29:


  1. Phillips AD, Jenkins P, Raafat F, Walker-Smith JA. 26 Congenital microvillus atrophy: specific diagnostic features. Arch Dis Child 1985; 60: 135-140.
  2. Unsworth DJ, Walker-Smith JA. Auto-immunity in diarrheal disease. J Pediatr Gastroenterol Nutr 1985; 4: 27 375-380.
  3. Goulet O, Besnard M, Girardet JP, Lachaux A, Sarles J

and the French Speaking Group of Hepatology, 28

Gastroenterology and Nutrition. Clin Nutr 1998; 17: 9

  1. Sanderson IR, Risdon RA, Walker-Smith JA. Intractable ulcerating enterocolitis of infancy. Arch Dis Child 1991; 29 65: 295-299.
  2. Cuenod B, Brousse N, Goulet O et al. Classification of intractable diarrhea in infancy using clinical and immunohistological criteria. Gastroenterology 1990; 99: 30 1037-1043.
  3. Goulet O, Brousse N, Canioni D et al. Syndrome of intractable diarrhoea with persistent villus atrophy in 31 early childhood: a clinicopathological survey of 47
  4. J Pediatr Gastroenterol Nutr 1998; 26: 151-161.
  5. Goulet O, Kedinger M, Brousse N et al. Intractable diarrhea of infancy: a new entity with epithelial and base- 32 ment membrane abnormalities. J Pediatr 1995; 127:


  1. Girault D, Goulet O, Ledeist F et al. Intractable diarrhea syndrome associated with phenotypic abnormalities 33 and immune deficiency. J Pediatr 1994; 125: 36-42.
  2. Davidson GP, Cuiz E, Hamilton JR, Gall DG. Familial enteropathy: a syndrome of protracted diarrhea from 34 birth, failure to thrive, and hypoplastic villus atrophy. Gastroenterology 1978; 75: 783-790
  3. Schmitz J, Ginies JL, Arnaud-Battandier F et al. 35 Congenital microvillus atrophy, a rare cause of neonatal intractable diarrhea. Pediatr Res 1982; 16: 1041a.
  4. Phillips AD, Schmitz J. Familial microvillus atrophy: a 36 clinicopathological survey of 23 cases. J Pediatr Gastroenterol Nutr 1992; 14: 380-396.
  5. Homberg C, Perheentupa J. Congenital chloride diarrhoea. Ergeb Inn Med Kinderheilkd 1982; 49: 138-172. 37
  6. Booth IW, Stange G, Murer H et al. Defective jejunal brush-border Na+/H+ exchange: a cause of congenital secretory diarrhoea. Lancet 1985; 1: 1066-1069.
  7. Phillips AD, Jenkins P, Raafat F, Walker-Smith JA. 38 Congenital microvillus atrophy: specific diagnostic features. Arch Dis Child 1985; 60: 135-140.
  8. Bell SW, Kerner JA Jr, Sibley RK. Microvillus inclusion 39 disease. The importance of electron microscopy for diagnosis. Am J Surg Pathol 1991; 15: 1157-1164.
  9. Phillips AD, Szfranski M, Man L-Y, Wall W. Periodic acid Schiff staining abnormality in microvillus atrophy: 40

photometric and ultrastructural studies. J Pediatr Gastroenterol Nutr 2000; 30: 34-42.

  1. Phillips A, Fransen J, Hauri HP, Sterchi E. The constitu- 41 tive exocytotic pathway in microvillus atrophy. J Pediatr Gastroenterol Nutr 1993; 17: 239-246
  2. Groisman GM, Amar M, Livne E. CD10: a valuable tool for the light microscopic diagnosis of microvillus inclu- 42

sion disease (familial microvillus atrophy). Am J Surg Pathol 2002; 26: 902-907.

23. Youssef N, Canioni D, Ruemmele F. CD-10 expression in 43 microvillous inclusion disease. J Pediatr Gastroenterol

Raafat F, Green NJ, Nathavitharana KA, Booth IW. Intestinal microvillus dystrophy: a variant of microvillus inclusion disease or a new entity? Hum Pathol 1994; 25: 1243-1248.

Carruthers L, Dourmaskhin R, Phillips A. Disorders of the cytoskeleton of the enterocyte. Clin Gastroenterol 1986;15 : 105-120.

Phillips A, Brown A, Murch S, Walker-Smith JA. Histochemical studies of microvillus atrophy: acetylated sialic acid residues accumulate in the epithelium. J Pediatr Gastroenterol Nutr 1999; 28: 565 (abstract). Nathavitharana KA, Green NJ, Raafat F, Booth IW. Siblings with microvillus inclusion disease. Arch Dis Child 1994; 71: 71-73.

Heinz-Erian P, Schmidt H, Le Merrer M et al. Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia. J Pediatr Gastroenterol Nutr 1999; 28: 203-205.

Michail S, Collins JF, Xu H et al. Abnormal expression of brush-border membrane transporters in the duodenal mucosa of two patients with microvillus inclusion disease. J Pediatr Gastroenterol Nutr 1998; 27: 536-542. Oliva MM, Perman JA, Saavedra JM et al. Successful intestinal transplantation for microvillus inclusion disease. Gastroenterology 1994; 106: 771-774. Herzog D, Atkinson P, Grant D et al. Combined bowel-liver transplantation in an infant with microvil-lus inclusion disease. J Pediatr Gastroenterol Nutr 1996; 22: 405-408.

Randak C, Langnas AN, Kaufman SS et al. Pretransplant management and small bowel-liver transplantation in an infant with microvillus inclusion disease. J Pediatr Gastroenterol Nutr 1998; 27: 333-337. Bunn SK, Beath SV, McKeirnan PJ et al. Treatment of microvillus inclusion disease by intestinal transplantation. J Pediat Gastroenterol Nutr 2000; 31: 176-180. Croft NM, Howatson AG, Ling SC et al. Microvillus inclusion disease: an evolving condition. J Pediatr Gastroenterol Nutr 2000; 31: 185-189. Goulet O, Michel JL, Jobert A et al. Small bowel transplantation alone or with the liver in children: changes by using FK506. Transplant Proc 1998; 30: 1569-1570. Reifen RM, Cutz E, Griffiths AM et al. Tufting enteropa-thy: a newly recognized clinicopathological entity associated with refractory diarrhea in infants. J Pediatr Gastroenterol Nutr 1994; 18: 379-385. Patey N, Scoazec JY, Cuenod-Jabri B et al. Distribution of cell adhesion molecules in infants with intestinal epithelial dysplasia (tufting enteropathy). Gastroenterology 1997; 113: 833-843. Hermiston ML, Gordon JI. Inflammatory bowel disease and adenomas in mice expressing a dominant negative N-cadherin. Science 1995; 270: 1203-1207. Murch S, Graham A, Vermault A et al. Functionally significant secondary inflammation occurs in a primary epithelial enteropathy. J Pediatr Gastroenterol Nutr 1997; 24: 467.

Krantz M, Jansson U, Rectors S et al. Hereditary intractable diarrhea with choanal atresia. A new familial syndrome. J Pediatr Gastroenterol Nutr 1997; 24: 470. Abely M, Hankard GF, Hugot JP et al. Intractable infant diarrhea with epithelial dysplasia associated with poly-malformative syndrome. J Pediatr Gastroenterol Nutr 1998; 27: 348-352.

Djeddi D, Verkarre V, Talbotec C et al. Tufting enteropathy and associated disorders. J Pediatr Gastroenterol Nutr 2002; 34: 446(A).

Lachaux A, Bouvier R, Loras I et al. a6b4 integrin deficiency. A new aetiology for protracted diarrhoea in infancy. J Pediatr Gastroenterol Nutr 1997; 24: 470.

  1. Beaulieu JF. Differential expression of the VLA family of integrins along the crypt-villus axis in the human small intestine. J Cell Sci 1992; 102: 427-436.
  2. Simon-Assmann P, Duclos B, Orian-Rousseau V et al. Differential expression of laminin isoforms and a6-b4 integrin subunits in the developing human and mouse intestine. Dev Dynamics 1994; 201: 71-85.
  3. Simon-Assmann P, Bouziges F, Vigny M, Kedinger M. Origin and deposition of basement membrane. Heparan sulfate proteoglycan in the developing intestine. J Cell Biol 1989; 109: 1837-1848.
  4. Simo P, Simon-Assmann P, Bouziges F et al. Changes in the expression of laminin during intestinal development. Development 1991; 112: 477-487.
  5. Simo P, Bouziges F, Lissitzky JC et al. Dual and asynchronous deposition of laminin chains at the epithelial mesenchymal interface in the gut. Gastroenterology 1992; 102: 1835-1845.
  6. Simon-Assmann P, Kedinger M. Heterotypic cellular cooperation in gut morphogenesis and differentiation. Cell Biol 1993; 4: 221-230.
  7. Cameron DJS, Barnes GL. Successful pregnancy outcome in tufting enteropathy. J Pediatr Gastroenterol Nutr 2003; 36: 158.
  8. Lacaille F, Cuenod B, Colomb V et al. Successful combined liver and small bowel transplantation in a child with epithelial dysplasia. J Pediatr Gastroenterol Nutr 1998; 2: 230-233.
  9. Goulet O. Intestinal transplantation. Curr Opin Clin Nutr Metab Care 1999; 2: 315-321.
  10. Paramesh AS, Fishbein T, Tschernia A et al. Isolated small bowel transplantation for tufting enteropathy. J Pediatr Gastroenterol Nutr 2003; 36: 138-140.
  11. Verloes A, Lombet J, Lambert Y et al. Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. Am J Med Gen 1997; 68: 391-395.
  12. De Vries E, Visser DM, Van Dongen JJ et al. Oligoclonal gammopathy in 'phenotypic diarrhea'. J Pediatr Gastroenterol Nutr 2000; 30: 349-350
  13. Cormier-Daire V, Bonnefont JP, Rustin P et al. Mitochondrial DNA rearrangements with onset as chronic diarrhea with villus atrophy. J Pediatr 1994; 124: 63-70.
  14. Murch S, Winyard PJD, Koletzko S et al. Congenital enterocyte heparan sulphate deficiency with massive albumin loss, secretory diarrhoea and malnutrition. Lancet 1996; 347: 1299-1301.
  15. Jaeken J, Matthijs G, Saudubray JM et al. Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. Am J Hum Genet 1998; 62: 1535-1539.
  16. Oren A, Houwen RH. Phosphomannose isomerase deficiency as the cause of protein-losing enteropathy and congenital liver fibrosis. J Pediatr Gastroenterol Nutr 1999; 29: 231-232.
  17. Smith LJ, Szymanski W, Foulston C et al. Familial enteropathy with villus edema and immunoglobulin G2 subclass deficiency. J Pediatr 1994; 125: 541-548.
  18. Itin PH, Pittelkow MR. Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasia. J Am Acad Dermatol 1990; 22: 705-717.
  19. Happle R, Traupe H, Gröbe H, Bonsmann G. The Tay syndrome (congenital ichthyosis with trichothiodystrophy). Eur J Pediatr 1984; 141: 147-152.
  20. Stefanini M, Vermeulen W, Weeda G et al. A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy. Am J Hum Genet 1993; 53: 817-821.
  21. Mariani E, Facchini A, Honorati MC et al. Immune defects in families and patients with xeroderma pigmen-tosum and trichothiodystrophy. Clin Exp Immunol 1992; 88: 376-382.

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