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Published on: October 21, 2014
Microvillous inclusion disease: report of a case with atypical features
G W Mierau1, E J Wills, J Wyatt-Ashmead
1Department of Pathology, The Children's Hospital, Denver, Colorado 80218, USA. mierau.gary@tchden.org
Abstract:
Microvillous inclusion disease is a rare lethal disorder characterized by intractable, severe, watery diarrhea beginning in early infancy. The underlying defect is thought to be an autosomal recessive genetic abnormality resulting in defective brush-border assembly and differentiation. Normally, this diagnosis is easily established through the electron microscopic demonstration of characteristic microvilli-lined inclusions lying within the apical cytoplasm of surface enterocytes. In a small number of patients appearing to have microvillous inclusion disease it has not proven possible to demonstrate the typical inclusions. The existence of another entity, termed intestinal microvillous dystrophy, has been proposed to account for such occurrences. This assertion was founded in large part upon the observation that the few subjects studied all displayed a slightly atypical clinical presentation. The case now being presented exhibited the morphologic features ascribed to intestinal microvillous dystrophy but had a clinical presentation that was entirely typical of microvillous inclusion disease. It serves thus to conceptually unite intestinal microvillous dystrophy with microvillous inclusion disease.
Insights
Microvillous inclusion disease (MIM) is a severe infant diarrhea disorder. This study suggests intestinal microvillous dystrophy may be a variant of MIM, unifying the conditions based on a case presentation.
Area of Science:
- Gastroenterology
- Pediatric Pathology
- Genetics
Background:
- Microvillous inclusion disease (MIM) is a rare, lethal genetic disorder causing severe infantile watery diarrhea.
- Diagnosis typically relies on electron microscopy showing characteristic microvilli-lined inclusions in enterocytes.
- Some cases lack these typical inclusions, leading to the proposed entity of intestinal microvillous dystrophy (IMD).
Observation:
- A patient presented with the morphological features of intestinal microvillous dystrophy.
- However, this patient exhibited a clinical presentation entirely typical of microvillous inclusion disease.
Findings:
- The study's findings challenge the distinction between MIM and intestinal microvillous dystrophy.
- Morphological findings previously attributed to intestinal microvillous dystrophy can occur in typical MIM cases.
Implications:
- This research conceptually unites intestinal microvillous dystrophy with microvillous inclusion disease.
- It suggests a potential overlap in the spectrum of brush-border assembly defects.
- Re-evaluation of diagnostic criteria for these conditions may be warranted.
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