Congenital microvillous atrophy

MVID, first reported in 1972 as a familial enteropathy is a congenital disorder of intestinal mucosa characterized by villous atrophy with marked abnormalities of enterocytes which on electron microscopy (EM) show loss of apical microvilli, intracytoplasmic microvillous inclusions as well as vesicular inclusion bodies and subapical secretory-like granules. The clinical manifestations include severe malabsorption and intractable watery diarrhea starting at birth (classical MVID) or at few days or weeks of age (variant MVID)...

UNLABELLED: Microvillus inclusion disease (MVID), a rare severe congenital enteropathy characterized by intracytoplasmic microvillous inclusions and variable brush border atrophy on intestinal epithelial cells histology, is associated with defective synthesis or abnormal function of the motor protein myosin Vb encoded by the MYO5B gene. Although MYO5B gene is expressed in all epithelial tissues, it is unclear so far whether organs other than intestine are affected in MVID patients. We report a case of an infant with MVID who presented liver dysfunction, hematuria, and Pneumocystis jiroveci pneumonia during the course of the disease...

BACKGROUND: Microvillous inclusion disease (MVID) is a rare congenital disease producing intractable secretory diarrhea in early infancy. It is characterized by diffuse intestinal villous atrophy with no inflammatory reaction. Ultrastructural identification of apical microvillous inclusions in the surface enterocytes is diagnostic. However, there is difficulty in the diagnosis of MVID due to the existence of variants (e.g., microvillous dystrophy), possible disease resolution, and tissue orientation for electron microscopy (EM)...

Microvillous inclusion disease (MVID) or microvillous atrophy is a congenital disorder of the intestinal epithelial cells that presents with persistent life-threatening watery diarrhea and is characterized by morphological enterocyte abnormalities. MVID manifests either in the first days of life (early-onset form) or in the first two months (late-onset form) of life. MVID is a very rare disorder of unknown origin, probably transmitted as an autosomal recessive trait. To date, no prevalence data are available...

All over the causes of intractable diarrhea of infancy, microvillous inclusion disease is a rare congenital defect of intestinal brush border of unknown aetiology. An autosomal recessive inheritance is suggested by cases occurring in siblings and high incidence of consanguinity. The prognosis of the disease is extremely poor, as life can be sustained only by total parenteral nutrition. Combined bowel-liver or bowel transplantation is regarded as the only potentially life-saving therapy. We report a case of microvillous atrophy who undergone a combined bowel, colonic and liver transplantation, and discuss the tools allowing the light microscopic diagnosis...

Congenital defects in the intestinal mucosa can provoke diarrhea in the neonatal period. This kind of diarrhea is difficult to treat and the outcome is bad if intestinal transplantation is not done. We describe the case of newborn female with severe protracted secretory diarrhea, which started after first oral intake of breast milk. The newborn presented with severe dehydration and persistent metabolic acidosis though potential treatment was not stopped. Endoscopy with the biopsies from the distal part of duodenum mucosa was done on the third week of life...

Congenital microvillous atrophy (CMVA) is the leading cause of neonatal secretory diarrhoea with onset either in the first 72 hours of life (early onset) or at 6-8 weeks after birth (late onset). To date over 30 cases have been reported worldwide. The prognosis for this life threatening condition continues to be poor. Therapeutic agents like somatostatin and epidermal growth factor are either ineffective or of marginal benefit. Overall five year survival after small bowel transplantation is currently approximately 50%...

A 3-month-old girl with congenital secretory diarrhea underwent a duodenal biopsy. Histologic study showed villous atrophy and large amounts of PAS-positive material within enterocyte cytoplasm. Despite a clinical suspicion of microvillous inclusion disease, 2 sessions of electron microscopy were unsuccessful in detecting the diagnostic inclusions. Instead, large aggregates of electron-lucent, vermiform membranous vesicles were observed in enterocyte cytoplasm, corresponding to the PAS-positive material. A third attempt at electron microscopy was successful in detecting small numbers of microvillous inclusions...

Microvillous inclusion disease (MID) and epithelial dysplasia (ED) or tufting enteropathy are the most frequent causes of intractable diarrhea with persistent villous atrophy and indefinite dependence on total parenteral nutrition (PN) from early infancy. Since these are intractable diseases, they have been proposed to be elective indication for early bowel transplantation in order to avoid complications, such as PN-related liver disease, that would require a combined small bowel-liver transplant. We describe four cases of intractable diarrhea, two with MID and two with ED, seeking to discover whether these diseases are really elective, early indications for bowel transplant...

INTRODUCTION: Epidermal growth factor (EGF) affects epithelial cell proliferation, differentiation and migration in the gastrointestinal tract of experimental animals, and increases proliferation when given intravenously to children with congenital microvillous atrophy or necrotising enteritis. The aim of the present study is to determine whether EGF receptors (EGFR) are present in the gut epithelium of preterm infants, and to discover whether neonatal necrotising enterocolitis (NEC) is associated with the absence of EGFR from mucosal cells...

No abstract text is available yet for this article.

BACKGROUND: The accumulation of periodic acid Schiff (PAS)-positive material in the epithelium in microvillous atrophy (MVA) is diagnostic but unexplained. It occurs earlier in the epithelial life cycle than the formation of microvillous inclusions and warrants further investigation. METHODS: Scanning photometry was used to assess the distribution of the PAS-positive material within epithelial cells and to assess how this changed with position on the crypt-villus axis...

This report concerns an 11-year-old boy who manifested hypophosphatemic rickets associated with congenital microvillous atrophy (CMA). He had been suffering from vomiting and severe diarrhea from the first day of life and had been treated with total parenteral nutrition (TPN) since he was 67 days old. At 4 years of age, intestinal biopsy resulted in a diagnosis of CMA. He was admitted to our hospital complaining of leg pain at the age of 11. Laboratory data revealed hypophosphatemia, elevated serum 1, 25-dihydroxyvitamin D (1,25(OH)2D) levels, and hypercalciuria...

We describe a boy of consanguineous parents who suffered from intractable diarrhoea due to congenital microvillous atrophy, a recessively inherited autosomal disorder. He developed severe cholestatis starting at 2 weeks of age and leading to liver cirrhosis. His psychomotor development appeared only slightly delayed. At the age of 7 months he died due to septicaemia. In addition to disturbances of electrolyte balance and renal tubular function, which could be attributed to microvillous atrophy, marked elevations of dihydrouracil and dihydrothymine as well as moderately elevated excretion of uracil and thymine in urine were repeatedly demonstrated, suggesting a disorder of pyrimidine degradation...

No abstract text is available yet for this article.

2 infants with chronic severe diarrhoea from birth and with lethal outcome have been studied. Small intestinal biopsies were examined by light and electron microscopy. Severe villous atrophy, complete loss of microvilli or rudimentary forms, intracytoplasmic vesicles, and microvillous inclusions are the characteristic features of the disease. The etiology is unknown. A disturbance in the transport of brush-border proteins to the cell surface is assumed to be the reason for congenital microvillous atrophy.

UNLABELLED: A "quick" prevalence study of intractable diarrhoea (defined as diarrhoea lasting more than 3 weeks and dependent on parenteral nutrition [PN] for more than 50% of daily caloric intake) was conducted by FAX. All 35 paediatric gastroenterology services which had been contacted answered questionnaire sent by FAX. 20 cases of intractable diarrhoea were identified in 9 centres. In 12 cases PN was administered at home, the other 8 cases being treated as inpatients for an average duration of 9...

Proximal small intestinal and colonoscopic mucosal biopsies from two children with the intractable diarrhea of infancy syndrome were examined by electron microscopy. Microvillous involutions were found in the small and large bowel of both patients. We suggest that this is a specific diagnostic finding for congenital microvillous atrophy, a distinct disorder within the intractable diarrhoea syndrome which has an extremely poor prognosis.

Twenty-three cases of microvillous atrophy were reviewed to determine clinical and morphological characteristics of the disease. Congenital and late-onset forms of presentation were clearly identified in which the late-onset cases appeared to have a better prognosis. Three different, and distinctive, appearances of the proximal small intestinal mucosa were found. Careful orientation of mucosal samples allowed a temporal sequence of events to be delineated in which the first morphological abnormality to be detected in the epithelium was the accumulation of "secretory granules"; microvillous inclusions were seen in older cells in the upper villous region...