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One case of microvilli inclusion disease caused by novel mutation of MYO5B gene and literature review
LI Di, QI Zhan, FU Li-bing, et al
2021, 36(9):
689-692.
DOI: 10.19538/j.ek2021090611
Objective To improve the understanding of microvilli inclusion disease（MVID） . Methods Summarize the clinical data of one child with MVID who was diagnosed by multidisciplinary consultation in the Center for Rare Diseases of Beijing Children’s Hospital，Capital Medical University，National Center for Children’s Health in April 2021, and review the literature. Results The clinical manifestations of MVID were severe watery diarrhea， repeated metabolic acidosis and feeding intolerance. Pathological examination of intestinal villi showed that wellarranged inclusion bodies of microvilli in the cytoplasm of atrophic villi，PAS staining（+），immunohistochemistry of CD10（+），homozygous or complex heterozygous mutation of MYO5B gene were helpful for diagnosis，and the mutation spectrum of MYO5B gene was also extended by this case. This disease needs long-term intravenous nutrition and life support，prevention and treatment of infection and other symptomatic treatment. Cocktail therapy was still in the clinical trial stage internationally, and the effect was not clear. Conclusion MVID is a rare disease,and the understanding of it should be improved. The early pathological detection of villi based on clinical manifestations and gene test can help to make the diagnosis，but there’s still big challenge in its treatment.
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