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Unusual feature of neonatal hypernatremic dehydration due to microvillus inclusion disease: a case report
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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The African Field Epidemiology Network
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195233/ https://www.ncbi.nlm.nih.gov/pubmed/30364420 http://dx.doi.org/10.11604/pamj.2018.30.109.12330 |
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author | Khalsi, Fatma Boukhris, Mohamed Riadh Brini, Ines Hugot, Jean Pierre Berrebi, Patsy Dominique Boussetta, Khedija |
author_facet | Khalsi, Fatma Boukhris, Mohamed Riadh Brini, Ines Hugot, Jean Pierre Berrebi, Patsy Dominique Boussetta, Khedija |
author_sort | Khalsi, Fatma |
collection | PubMed |
description | 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. The authors report a preterm male newborn of 35 weeks gestation presenting severe hypernatremic dehydration on day 4 after birth caused by a secretory profuse diarrhea and discuss the tools allowing the light microscopic and genetic diagnosis. The final diagnosis of microvillus intestinal disease (MVID) was made on the third month after extensive investigations using electron microscopic examination of intestinal biopsy and genetic confirmation, finding a mutation at the homozygous status of MYO5B gene. The infant died on the fourth month in spite of optimal electrolytic support and parenteral prolonged nutrition. Although MVID is extremely rare, it remains a possible cause of intractable secretory diarrhea leading to severe hypernatremic dehydration and metabolic acidosis in neonates. |
format | Online Article Text |
id | pubmed-6195233 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | The African Field Epidemiology Network |
record_format | MEDLINE/PubMed |
spelling | pubmed-61952332018-10-24 Unusual feature of neonatal hypernatremic dehydration due to microvillus inclusion disease: a case report Khalsi, Fatma Boukhris, Mohamed Riadh Brini, Ines Hugot, Jean Pierre Berrebi, Patsy Dominique Boussetta, Khedija Pan Afr Med J Case Report 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. The authors report a preterm male newborn of 35 weeks gestation presenting severe hypernatremic dehydration on day 4 after birth caused by a secretory profuse diarrhea and discuss the tools allowing the light microscopic and genetic diagnosis. The final diagnosis of microvillus intestinal disease (MVID) was made on the third month after extensive investigations using electron microscopic examination of intestinal biopsy and genetic confirmation, finding a mutation at the homozygous status of MYO5B gene. The infant died on the fourth month in spite of optimal electrolytic support and parenteral prolonged nutrition. Although MVID is extremely rare, it remains a possible cause of intractable secretory diarrhea leading to severe hypernatremic dehydration and metabolic acidosis in neonates. The African Field Epidemiology Network 2018-06-11 /pmc/articles/PMC6195233/ /pubmed/30364420 http://dx.doi.org/10.11604/pamj.2018.30.109.12330 Text en © Fatma Khalsi et al. http://creativecommons.org/licenses/by/2.0/ The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Khalsi, Fatma Boukhris, Mohamed Riadh Brini, Ines Hugot, Jean Pierre Berrebi, Patsy Dominique Boussetta, Khedija Unusual feature of neonatal hypernatremic dehydration due to microvillus inclusion disease: a case report |
title | Unusual feature of neonatal hypernatremic dehydration due to microvillus inclusion disease: a case report |
title_full | Unusual feature of neonatal hypernatremic dehydration due to microvillus inclusion disease: a case report |
title_fullStr | Unusual feature of neonatal hypernatremic dehydration due to microvillus inclusion disease: a case report |
title_full_unstemmed | Unusual feature of neonatal hypernatremic dehydration due to microvillus inclusion disease: a case report |
title_short | Unusual feature of neonatal hypernatremic dehydration due to microvillus inclusion disease: a case report |
title_sort | unusual feature of neonatal hypernatremic dehydration due to microvillus inclusion disease: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195233/ https://www.ncbi.nlm.nih.gov/pubmed/30364420 http://dx.doi.org/10.11604/pamj.2018.30.109.12330 |
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