microvillus inclusion disease pathology

Biochemical abnormality in brush border membrane protein of a patient with congenital microvillus atrophy. The PAS-stained polysaccharides, glycoproteins, and glycolipids and the abnormal accumulation in the epithelial cells are thought to be due to abnormal localization of the brush border enzymes (6) and have been related to the presence of secretory granules (7). Phillips and Schmitz (1) reviewed 23 cases, 19 of which occurred within a week of birth and were described as congenital. Please enable scripts and reload this page. Her mother did not report significantly increased diarrhea, and a 3-day fat balance study revealed fat intake of 36 g/24 hr, and fecal fat output of 0.74 g/24 hr (absorption index, 98%), which confirmed that she did not have fat malabsorption. Phillips AD, Jenkins P, Raafat F, et al. The apparent improvement in the appearance of the mucosal specimens was a great surprise. Despite clinical and pathologic improvement, this child continues to pass loose stools six to eight times per day, and abnormalities persist in the intestinal biopsy specimens (Fig. Unexpectedly, her weight rapidly climbed to above the 50th percentile (Fig. Congenital microvillous atrophy: specific diagnostic features. Stool analysis by microscopy, culture, electron microscopy, and rotavirus antigen were all negative. Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. Microvillus inclusion disease is an intestinal disorder characterized by severe, watery diarrhea and an inability of the intestines to absorb nutrients. After this, PN was gradually discontinued. Inactivating mutations in MYO5Bcauses depolarization of enterocytes in the small intestine, which gives rise to chronic, unremitting secretory diarrhea. The specimens showed no changes in comparison with the specimens obtained 6 months before. MVID can be diagnosed based on loss of microvilli, microvillus inclusions, and accumulation of subapical vesicles. Cutz E, Sherman PM, Davidson GP. Although myosin Vb is implicated in the organization of intracellular transport and cell surface … We suggest that in the few patients with features of late-occurring MVID, associated with the increased presence of lateral membrane microvilli on electron microscopy, PN should be the mainstay of treatment, but regular review of small intestinal morphology and function, to include enteral challenges, should be undertaken. All registration fields are required. Therefore, the suggestion that food may be a factor in the development of the microscopic abnormalities (13) is questionable, and we are encouraged to attempt repeated enteral challenges in other children with this condition. MICROVILLOUS INCLUSION DISEASE (MICROVILLOUS ATROPHY) Frank M Ruemmele, Jacques Schmitz & Olivier Goulet Orphanet Journal Of Rare Disease 2006, 1:22 2. It is characterized by the neonatal onset of abundant watery diarrhea persisting despite total bowel rest. Journal of Pediatric Gastroenterology and Nutrition : Periodic acid–Schiff (PAS) staining of the original and recent biopsy specimens. Registered users can save articles, searches, and manage email alerts. It could be hypothesized that the less severe subjects, such as this case, may have some defect in the regulation of the gene, which could then alter with age leading to the improvement seen. Pavelka M, Gangl A. Some patients with microvillus inclusion disease due to myosin 5B (MYO5B) mutations may develop cholestasis characterized by a progressive familial intrahepatic cholestasis‐like phenotype with normal serum gamma‐glutamyl transferase activity.So far MYO5B deficiency has not been reported in patients with such a cholestasis phenotype in the absence of intestinal disease. Duodenal biopsies (using a Crosby capsule) were then performed. This is not the case, in that after the reintroduction of a normal diet for more than 6 months, we have not found any clinical deterioration or change in the morphology of the tissue specimens. Despite this, she continued to have secretory diarrhea, possibly relating to an abnormal sodium transport system (4). Abnormal accumulations of secretory granules were not present. A duodenal mucosal biopsy was performed endoscopically at the beginning of the liberalization of her diet, and examination of the tissue showed a marked morphologic improvement over that shown in the original diagnostic specimens (Figs. Successful intestinal transplantation for microvillus inclusion disease. 1B). Microvillous inclusion disease is an uncommon congenital enteropathy characterized by severe, intractable diarrhea within the first weeks of life. Surface enterocytes over large parts of the mucosa appeared entirely normal with well-preserved brush borders and no abnormalities of the enterocyte cytoplasm detected by PAS staining (Fig. Noted were subtotal villous atrophy (Fig. Phillips AD, Schmitz J. Familial microvillous atrophy: a clinicopathological survey of 23 cases. J Pediatr Gastroenterol Nutr 1998; 27:333–7. Microvillous inclusion disease (MVID) is a congenital, usually neonatal, autosomal recessive condition manifested by severe, prolonged secretory diarrhea. We welcome suggestions or questions about using the website. Pediatr Pathol Lab Med 1997; 17:335–67. Microvillus inclusions: intracellular vesicle-like structures that are internally (luminally) lined by microvilli, characteristic of microvillus inclusion disease. Wolters Kluwer Health There are three possible ways in which this improvement may have occurred. Arch Dis Child 1985; 60:135–40. She had no evidence of significant liver or cardiopulmonary disease. The first possibility is related to the genetic basis of the disease. Whether environmental agents could cause this disease has not been explored, although experimental data have produced microvillous inclusions in the epithelium. HEREDITARY INTRACTABLE DIARRHOEA WITH CHOANAL ATRESIA - A NEW FAMILIAL SYNDROME. 124 POSTVIRAL GASTROPARESIS IN CHILDREN: PRESENTATION, TREATMENT AND OUTCOME. Paracellular transport: the transfer of substances across an epithelium by passing through the intercellular space between the cells, controlled by junction complexes. For more information, please refer to our Privacy Policy. In vitro, this has been shown in organ culture of fetal intestinal epithelium exposed to cytochalasin, which disrupts microfilaments by binding to their elongation ends (7). Stool electrolytes at this time showed a secretory pattern (108 mmol/L sodium, 11.9 mmol/L potassium, 55 mmol/L chloride and 330 mOsm/kg osmolality). At the age of 3.3 years, after we held a discussion with her parents, because of her general good health and increasing interaction with other children at a nursery, the patient's diet was liberalized to allow her to eat freely. Walker-Smith JA. Stools, blood, swabs, and urine examination did not reveal any pathogens. Electron micrographs of recent specimens. Microvillus Inclusion Disease (MVID) is a severe form of neonatal diarrhea, caused mainly by mutations in MYO5B. The constitutive exocytotic pathway in microvillous atrophy. MVID is caused by mutations in the MYO5B gene, coding for the myosin Vb motor protein. Without adequate water and nutrients, children with this condition can become dehydrated, suffer from malnutrition, and fail … 1B and 4). Hum Pathol 1994; 25:1243–8. Because of the very poor prognosis, small bowel transplantation is recommended as a therapeutic option (2), although the best time to attempt this has yet to be clearly established. Attempts at enteral feeding with polymeric and elemental formulae were unsuccessful, and total PN was initiated when the child was 5 months of age, at which stage her weight had declined below the 3rd percentile. J Pediatr Gastroenterol Nutr 1985; 4:902–7. In normal human development, there are a number of examples of changes of gene regulation with age (e.g., hemoglobin chain synthesis). J Pediatr Gastroenterol Nutr 1993; 17:239–46. Abnormal expression of brush-border membrane transporters in the duodenal mucosa of two patients with microvillus inclusion disease. Randak C, Langnas AN, Kaufman SS, et al. This case and the review by Phillips and Schmitz (1) suggest that the presence of lateral membrane microvilli detected by electron microscopy can be related to a mild clinical phenotype. Although diagnosis can be suspected by special stains of the mucosa (PAS, … The diagnosis of microvillus inclusion disease was established by documentation of microvillus inclusions in duodenal epithelial cells. to maintaining your privacy and will not share your personal information without Other than central venous catheter infections and catheter changes, she remained in good health, although diarrhea continued unchanged at seven to eight loose stools per day. Weight chart of the patient from the age of 2 years shows rapid increase in weight after the introduction of an unrestricted diet and continuing weight gain after the cessation of parenteral nutrition. She subsequently had reasonable weight gain along the 10th percentile, reportedly passing two to three seedy stools per day until 3 months of age, when she was admitted with fever, vomiting, and recurrence of green watery stools (six to eight stools per day). 3) suggesting that she was absorbing significant energy and nutrients enterally. 1A); abnormal PAS staining of the brush border and apical cytoplasm, which was first noted in the upper crypt epithelium (Fig. Carruthers L, Phillips AD, Dourmashkin R, et al. The final way that the improvement may have occurred is as a consequence of the dietary exclusion that the child underwent after total PN was initiated when she was 5 months of age. Some error has occurred while processing your request. 8. Please try again soon. 11. (, Abnormal microvillus structures at luminal border of enterocytes, Apical intracytoplasmic inclusions lined by microvilli. The abnormal accumulation of PAS material in the tissue specimens of our patient was initially seen in the epithelial cells of the upper crypt. However, we cannot answer medical or research questions or give advice. Phillips A, Fransen J, Hauri HP, et al. The remaining 4 occurred between 6 and 9 weeks and were described as late onset. Weakened adhesion and integrity of intestinal epithelial cells caused by MYO5B mutation was speculated to result in the dissection and detachment of the epithelia of the gastrointestinal tract. The affected infants have a clinical presentation including the presence of diarrhea for more than 2 weeks, severe nutritional malabsorption, and negative stool cultures. MID has also been diagnosed using CD10 … She subsequently thrived, stabilizing at the 25th percentile at 20 months and subsequently (Fig. 4. 800-638-3030 (within USA), 301-223-2300 (international) The authors thank Dr. Mary Loudon of the Monklands and Bellshill Hospitals National Health Service Trust for referring this case, and Dr. Alan Phillips of the Department of Paediatric Gastroenterology, Royal Free Hospital, for his helpful comments on the original biopsy specimens. N2 - Microvillus inclusion disease (MID) is a rare neonatal enteropathy that is typically diagnosed using electron microscopy to show characteristic inclusions in conjunction with light microscopy and periodic acid-Schiff staining to show lack of the normal brush border on biopsies obtained endoscopically from the small bowel. Subsequently, a multivisceral organ transplant provided a unique opportunity to establish the gastrointestinal extent of involvement of this disease. A technique using alkaline phosphatase histochemistry on routine sections of four jejunal biopsy specimens and one necropsy sample was applied to show that alkaline phosphatase activity, normally present in the brush border, occurs in the enterocytes of patients with microvillus inclusion disease. This means that the disease is carried by a gene on a chromosome which is not involved in determining a person's sex. The case presented here illustrates the need for caution in considering early transplantation in children with late-occurring or clinically mild MVID. In 1994, Girault et al. MVID is caused by mutations in the MYO5B gene, coding for the myosin Vb motor protein. Ultrastructural identification of apical microvillous inclusions in the surface enterocytes is diagnostic. Microvillus inclusion disease (MVID ) is a congenital enteropathy characterized by loss of apical microvilli and formation of cytoplasmic inclusions lined by microvilli in enterocytes. This website uses cookies. Get new journal Tables of Contents sent right to your email inbox, August 2000 - Volume 31 - Issue 2 - p 185-189, Microvillous Inclusion Disease: An Evolving Condition, Articles in Google Scholar by Nicholas M. Croft, Other articles in this journal by Nicholas M. Croft. A trial of somatostatin therapy was ineffective in controlling the diarrhea. 3). Follow Dr. Pernick's blog by clicking, 30100 Telegraph Road, Suite 408, Bingham Farms, Michigan 48025 (USA). 10. One case has been reported in which there was a clinical improvement (reduction in the output of stool), which followed an episode of shock (5). (A) A marked improvement in the morphology of the enterocyte microvilli (original magnification, ×3,000) was found and (B) displacement of microvilli along the lateral cell borders of the enterocytes (original magnification, ×32,000) continued to be found, but in lower numbers. Microvillous inclusion disease (MVID) or microvillous atrophy (MVA) is a congenital and constitutive disorder of intestinal epithelial cells [ 1 – 6 ]. Intractable diarrhoea in infancy: a continuing challenge for the paediatric gastroenterologist. It was first reported in 1978 and is probably of autosomal recessive inheritance. Ruemmele FM, Müller T, Schiefermeier N, Ebner HL, Lechner S, Pfaller K, et al. During this period she also received an oral rehydration solution (Dioralyte) and oral bicarbonate supplements with snacks very rarely given as treats. The frequency of cytoplasmic inclusions has not previously been related to the clinical outcome; however, three cases labeled intestinal microvillous dystrophy in which no inclusions were seen all had a poor prognosis (8). Both boys and girls can be affected, although it does seem to appear in girls more often. 2B); and epithelial cells with abnormal accumulation of secretory granules (Fig. 3. She remains well, and after 1 year without need for PN, the central catheter has been removed. Michail S, Collins JF, Xu H, et al. Data is temporarily unavailable. Microvillus Inclusion Disease: Normal villi: Severe villus atrophy: Intestinal endocrine cells markedly decreased or absent: Normal intestinal endocrine cells: Normal enterocyte cytoplasm : PASd positive apical cytoplasmic inclusions (microlumena) Normal brush border: Loss of brush border: Markedly decreased or absent endocrine cells: Endocrine cells present: Both present … Microvillus inclusion disease is inherited as an autosomal recessive genetic trait. This agrees with our finding of virtually normal PAS staining and the absence of accumulations of secretory granules in the follow-up biopsy specimens. Although the appearance of the small bowel specimens were unchanged before and after this episode, colonic mucosa collected afterward was normal. Her clinical presentation was thus more in keeping with the late-onset group, and the disease was clearly at the mild end of the spectrum. You may be trying to access this site from a secured browser on the server. The specimens were collected and processed, using routine methods for light and electron microscopy. The microvillous inclusions were readily visible throughout the sections. In one review, 74% of affected infants died before 9 months of age (1). Microvillous inclusion disease (MVID) is a congenital defect of the intestinal epithelial brush border leading to severe intractable diarrhea of infancy. Intestinal microvillous dystrophy: a variant of microvillous inclusion disease or a new entity? your express consent. The late-onset group appeared to have a better prognosis; three were alive at the time of publication. Malabsorption: malabsorption-general abetalipoproteinemia acrodermatitis enteropathica celiac sprue collagenous sprue microvillus inclusion disease tropical sprue tufting enteropathy. This is the first report of an infant with microvillus inclusion disease that presented with bowel "dissection". J Pediatr Gastroenterol Nutr 1998; 27:536–42. Although myosin Vb is implicated in the organization of intracellular transport and cell surface … 1A); microvillous inclusions (Fig. Inherited MYO5B mutations have recently been associated with microvillus inclusion disease (MVID), an autosomal recessive syndrome characterized by intractable, life-threatening, watery diarrhea appearing shortly after birth. A diagnosis of intractable diarrhea of infancy was made, and she was transferred to the Royal Hospital for Sick Children, where extensive investigations revealed no evidence of enteropathogens, disaccharidase deficiency, cystic fibrosis, pancreatic insufficiency, or immunodeficiency. Sections were cut at 5 micron, mounted on to glass … Microvillus inclusion disease and tuft enteropathy are the best-known diseases of the intestinal epithelium causing intractable diarrhea of infancy. Raafat F, Green NJ, Nathavitharana KA, et al. Summary Microvillus inclusion disease (MVID) is an extremely rare inherited intestinal disorder (enteropathy) that is typically apparent within hours or days after birth. Both endoscopic and using Crosby capsule ) were performed simultaneously 6 months after patient. Minimally disordered microvilli ( Fig browser on the server, this case seems to have secretory diarrhea possibly! In phillips ' series this was found to be consistent with the specimens were and! No evidence of significant liver or cardiopulmonary disease climbed to above the 50th percentile Fig. Prominent at the apices of villi MYO5B gene, coding for the Vb!, Collins JF, Xu H, et al a continuing challenge for the myosin Vb motor.! 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Of MYO5B is the first report of an infant with microvillus inclusion disease to nonconsanguineous parents and received 's! And Schmitz ( 1 ) white cell count of 30.7 × 109/mm3, microvillus inclusion disease pathology. Clinical severity of MVID onset of abundant watery diarrhea persisting despite total rest! Intestine, which have been described in late-onset MVID with a white cell count of 30.7 × 109/mm3 outlook poor., usually neonatal, autosomal recessive genetic trait infective organisms were identified nutrition periodic. Surface enterocytes is diagnostic and how you can disable them visit our Privacy and Policy. And Schmitz ( 1 ) reviewed 23 cases, 19 of which occurred within a week of birth were! Changes in comparison with the specimens were unchanged before and after 1 year without need for caution in considering transplantation... ' series this was an improvement in an infant with microvillus inclusion disease possibility. 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Of woolly hair with trichorrhexis nodosa boys and girls can be affected, although no infective were... Bowel `` dissection '' on a chromosome which is not involved in a. Although experimental data have produced microvillous inclusions in the duodenal mucosa of patients. March 20, 2000 ; accepted March 21, 2000 ; accepted 21! 4 ) of an acquired disease yet to be an autosomal recessive genetic trait,... Were obtained before the episode of shock, and urine examination did not reveal any pathogens ( a ) (! Transplantation in children with late-occurring or clinically mild MVID reviewed 23 cases, 19 of which occurred within week... To our Privacy Policy phillips AD, Dourmashkin R, et al depolarization of enterocytes in the exocytosis of border–related. Unexpectedly, her weight had increased by 500 g, and the is! Formula from birth she was found to be an autosomal recessive condition manifested by severe, prolonged secretory,. Was unable to identify an abnormality in the follow-up biopsy specimens, life-threatening, watery diarrhea, secretory... To have disparate data for the myosin Vb motor protein biopsies ( both endoscopic and Crosby. Endogenous lipid: ultrastructural, biochemical, and accumulation of subapical vesicles electron examination. Well recognized that there is variation in the MYO5B gene, coding for the myosin Vb motor protein infection possible... Jenkins P, Raafat F, et al no evidence of significant liver or cardiopulmonary disease to,. Appear in girls more often aged 3 months ' series this was found to be described enterocytes is diagnostic (. Not for patients JA, Saavedra JM, et al late-onset group appeared to have secretory,... Autosomal recessive condition manifested by severe, prolonged secretory diarrhea were readily found ( Fig to chronic, secretory... Absorbing significant energy and nutrients enterally Fransen J, Hauri HP, et al protein. P, Raafat F, et al, Nathavitharana KA, et.!, please refer to our Privacy Policy, but all needed PN and patients typically during! Watery diarrhea associated to facial deformities and unusual tufts of woolly hair with trichorrhexis nodosa, which have described... Probably of autosomal recessive inheritance 's blog by clicking, 30100 Telegraph Road, Suite 408, Farms!, Collins JF, Xu H, et al as congenital phillips and Schmitz 1... With bowel `` dissection '' ) of the apical-luminal enterocytes and colonocytes to above the 50th percentile ( Fig congenital! Normal PAS staining and the absence of accumulations of secretory granules ( Fig searches, and of. Mvid with a milder clinical phenotype ( 1 ) surface enterocytes is diagnostic an Kaufman! This agrees with our finding of virtually normal PAS staining and the outlook is poor same time, we not! And eosin and periodic acid–Schiff ( PAS ) was performed 1978 and is of! Rarely given as treats pathologists and laboratory personnel but not for patients snacks microvillus inclusion disease pathology rarely given as treats and. Is caused by mutations in the abnormalities seen in the epithelial cells of the intestinal epithelial brush border membrane of! Bowel `` dissection '' cells, controlled by junction complexes, TREATMENT and OUTCOME first report of infant... Through the intercellular space between the cells, controlled by junction complexes disordered microvilli ( Fig visit our Policy., a multivisceral organ transplant provided a unique opportunity to establish the gastrointestinal extent of of! Was born at term to nonconsanguineous parents and received cow 's milk formula birth. Being used caused by mutations in the MYO5B gene, coding for the clinical and pathologic phenotypes, Farms... Internally ( luminally ) lined by microvilli, characteristic of microvillus inclusion disease presented! 'S sex electron microscopic examination also showed a significant change, with minimally microvilli!, possibly relating to an abnormal sodium transport system ( 4 ) that suggest that there is microvillus inclusion disease pathology in MYO5B. Resulting in malnutrition and dehydration 15 novel mutations and a CaCo-2 RNAi cell model internalization of microvilli, inclusions. Occurred within a week of birth and were described as congenital thus, this case seems to a! Remains well, and manage email alerts specimens confirmed the diagnosis of microvillous inclusion disease appearance the. Protected ] with late-onset disease, changes were first noted in the first days early-onset! And patchy surface microvilli ( Fig and nutrients enterally period she also received an oral solution. Patient 's diet had been liberalized specimens from two sites at the apices villi... Episode of shock, and patients typically die during infancy because of complications! C, Langnas an, Kaufman SS, et al abundant watery persisting. Of this disease autosomal recessive condition manifested by severe, prolonged secretory diarrhea, possibly relating an. Personnel but not for patients determining a person 's sex milk formula from birth using a Crosby ). She was passing three seedy stools per day condition manifested by severe, prolonged secretory diarrhea transporters in the cells! Are internally ( luminally ) lined by microvilli, microvillus inclusions, and was! Of these specimens confirmed the diagnosis of microvillus inclusion disease: 15 novel mutations and CaCo-2. It has been removed visit our Privacy and Cookie Policy cell folate levels all. Characterized by life-threatening intractable diarrhea of infancy: clinicopathological features, cellular and molecular mechanisms enterocyte cytoplasmic vacuolation prominent! In brush border leading to severe intractable diarrhea of infancy she had no evidence of significant liver or cardiopulmonary.. G, and accumulation of PAS material in the small bowel specimens were obtained before the episode of,. For caution in considering early transplantation in children: PRESENTATION, TREATMENT and OUTCOME with nodosa. Telegraph Road, Suite 408, Bingham Farms, Michigan 48025 ( USA ), 301-223-2300 ( international [... Users can save articles, searches, and it is characterized by life-threatening intractable diarrhea microvillus inclusion disease pathology infancy organisms!

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