Introduction
Synovial sarcoma is a rare malignant mesenchymal tumor mainly arising in the peri-articular tissue in young adults. There are few cases reported in other areas.
Case presentation
We report the case of a 29-year-old Saudi woman of Arabian ethnicity with synovial sarcoma arising primarily from the ileum who presented with abdominal pain, a palpable mass and incomplete intestinal obstruction. A literature review was performed to gather information on this rare gastrointestinal tract sarcoma.
Conclusions
Although it is a rare tumor of the pre-articular tissues, synovial sarcoma can present, in exceedingly rare cases, in unusual anatomical sites such as the gastrointestinal tract. We believe the reporting of all rare or unexpected presentations of sarcoma will eventually improve our understanding of this relatively unusual malignancy.
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.
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