Trichohepatoenteric syndrome is a rare autosomal recessive genetic disease caused by TTC37 (also known as SKIC3) or SKIV2L gene variant. We present a severely affected 2-month-old male infant with recurrent fever and unexplained diarrhea. Additionally, clinical data of 11 patients with trichohepatoenteric syndrome in China from 1 to 60 days of onset was presented. The infant's condition was not substantially relieved after cefotaxime sulbactam and meropenem treatment. Whole-exome sequencing revealed compound heterozygous variants (c.1708C>T and c.3342-9T>G) in TTC37 of the child whose parents were heterozygous carriers of the corresponding locus. The c.3342-9T>G variant originated from his mother and was reported for the first time. Combined with the clinical manifestations, the infant was diagnosed with trichohepatoenteric syndrome and treated with ganciclovir antiviral, intravenous nutritional support, and liver function protection. The infant was discharged with no fever and high stool frequency, but his condition improved. Therefore, trichohepatoenteric syndrome should be considered for recurrent fever and unexplained diarrhea.
Keywords: TTC37; Trichohepatoenteric syndrome; cytomegalovirus; whole-exome sequencing.
© The Author(s) 2024.