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Case Reports
. 2021 Jan 1;72(1):e22-e24.
doi: 10.1097/MPG.0000000000002792.

MYO5B Pathogenic Variants Found to Cause Intestinal Symptoms Without Microvillus Inclusion Disease in a Child Who Previously Underwent Liver Transplantation for PFIC-like Cholestasis

Chaowapong Jarasvaraparn  1 , Mai He  2 , Jorge L Granadillo  3 , Sakil Kulkarni  1 , Janis Stoll  1 , Kim Liss  1
Affiliations
Case Reports

MYO5B Pathogenic Variants Found to Cause Intestinal Symptoms Without Microvillus Inclusion Disease in a Child Who Previously Underwent Liver Transplantation for PFIC-like Cholestasis

Chaowapong Jarasvaraparn et al. J Pediatr Gastroenterol Nutr. .

Abstract

Myosin 5B (MYO5B) pathogenic variants are associated with microvillus inclusion disease (MVID), a congenital disorder of the enterocyte characterized by intractable diarrhea (5). A subset of MVID patients also have cholestatic liver disease. Conversely, some patients may have isolated cholestasis without gastrointestinal symptoms (2). Such patients have been described to have a progressive familial intrahepatic cholestasis (PFIC)-like phenotype with normal serum gamma-glutamyl transferase. We report a novel case in which MYO5B pathogenic variants were discovered by whole exome sequencing in a post-liver transplant patient who originally presented with PFIC-like cholestasis and chronic intermittent diarrhea without ultrastructural evidence of microvillus inclusion disease.

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Conflict of interest statement

The authors report no conflicts of interest.

Figures

Figure 1:
Figure 1:. Liver biopsy (1A H&E 200x; 1B, H&E, 600x)
Bland canalicular cholestasis throughout with largely intact architecture, with normal portal tracts and lobules. Bile ducts are present in all portal tracts. The histologic features are consistent with PFIC.
Figure 2:
Figure 2:
Duodenal biopsy specimens. (A) Present of immunohistochemistry for brush border components CD10 (a neutral membrane-associated peptidase). (B) Transmission electron microscopy depicting normal microvilli.
See this image and copyright information in PMC

References

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Publication types

Supplementary concepts