Abstract
Two male siblings from a consanguinous Pakistani family had fatal diarrhoea with an onset at 24 and 48 hours after birth. A diagnosis of microvillous inclusion disease (MVID) was established by showing characteristic light and electron microscopic features in the small intestinal biopsy specimen on day 6 of life in case 1. The typical abnormalities of MVID were also demonstrated retrospectively in case 2 by examining archival appendicular tissue from 10 years previously. These cases are consistent with an autosomal recessive inheritance for MVID. Retrospective diagnosis of MVID is possible by examining appropriate archival material, which may aid genetic counselling and future research.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Candy D. C., Larcher V. F., Cameron D. J., Norman A. P., Tripp J. H., Milla P. J., Pincott J. R., Harries J. T. Lethal familial protracted diarrhoea. Arch Dis Child. 1981 Jan;56(1):15–23. doi: 10.1136/adc.56.1.15. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Carruthers L., Dourmashkin R., Phillips A. Disorders of the cytoskeleton of the enterocyte. Clin Gastroenterol. 1986 Jan;15(1):105–120. [PubMed] [Google Scholar]
- Carruthers L., Phillips A. D., Dourmashkin R., Walker-Smith J. A. Biochemical abnormality in brush border membrane protein of a patient with congenital microvillus atrophy. J Pediatr Gastroenterol Nutr. 1985 Dec;4(6):902–907. doi: 10.1097/00005176-198512000-00009. [DOI] [PubMed] [Google Scholar]
- Cutz E., Rhoads J. M., Drumm B., Sherman P. M., Durie P. R., Forstner G. G. Microvillus inclusion disease: an inherited defect of brush-border assembly and differentiation. N Engl J Med. 1989 Mar 9;320(10):646–651. doi: 10.1056/NEJM198903093201006. [DOI] [PubMed] [Google Scholar]
- Larcher V. F., Shepherd R., Francis D. E., Harries J. T. Protracted diarrhoea in infancy. Analysis of 82 cases with particular reference to diagnosis and management. Arch Dis Child. 1977 Aug;52(8):597–605. doi: 10.1136/adc.52.8.597. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Phillips A. D., Schmitz J. Familial microvillous atrophy: a clinicopathological survey of 23 cases. J Pediatr Gastroenterol Nutr. 1992 May;14(4):380–396. [PubMed] [Google Scholar]