Microvillus Inclusion Disease Variant in an Infant with Intractable Diarrhea
2017 ◽
Vol 11
(3)
◽
pp. 655-659
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Keyword(s):
Microvillus inclusion disease (MVID) is a rare autosomal recessive congenital enteropathy characterized by intractable secretory diarrhea. We report a case of MVID variant with a homozygous gene mutation in syntaxin 3 (STX3). The patient is a male Saudi infant who presented shortly after birth with severe vomiting, metabolic acidosis, and mild diarrhea. Electron microscopy study for small intestinal biopsy was consistent with MVID. MYO5B gene mutation was excluded; subsequently, whole exome sequencing (WES) was performed, which revealed homozygous gene mutation in STX3. Using WES in clinical environment can be a useful tool for diagnosing difficult and rare inherited congenital enteropathies.
1971 ◽
Vol 29
◽
pp. 212-213
1992 ◽
Vol 50
(2)
◽
pp. 1114-1115
1992 ◽
Vol 50
(2)
◽
pp. 1362-1363
Keyword(s):
1985 ◽
Vol 43
◽
pp. 348-349
1993 ◽
Vol 51
◽
pp. 1162-1163
Keyword(s):
1990 ◽
Vol 48
(4)
◽
pp. 50-51
1990 ◽
Vol 48
(3)
◽
pp. 290-291
2002 ◽
Vol 82
(4)
◽
pp. 735-749
◽
2003 ◽
Vol 112
◽
pp. 615-618
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Keyword(s):
1988 ◽
Vol 49
(C8)
◽
pp. C8-1979-C8-1980
Keyword(s):