A Case of Mild Trichohepatoenteric Syndrome With New Variant Mutation in SKIV2L Gene: Case Report.

Rawia F Albar,Enad F Alsulimani,Ahmed M Almasrahi,Mohammed S Alghamdi,Khalid A Alsalmi

doi:10.7759/cureus.19404

Abstract

Trichohepatoenteric syndrome (THES) is a rare autosomal recessive genetic disease characterized by severe early onset diarrhea, woolly and brittle hair, immunodeficiency, and liver disease. A mutation in either SKIV2L or TTC37 genes can cause the disease. We report a case of a 41-month-old girl who suffered from intractable watery diarrhea, hair abnormality, dysmorphic features, and poor weight gain. The diagnosis was made through whole-exome sequencing analysis. The analysis detected a new variant mutation (c.1201G > A) p. (Glu401Lys) in the SKIV2L gene. She was admitted once for poor weight gain and nasogastric tube (NGT) feeding, with which the patient showed improvement. She was discharged to go home on hypoallergenic baby formulas and a regular diet with improved weight gain.

Highlights

Trichohepatoenteric syndrome (THES), or sometimes called syndromic diarrhea, a rare cause of intractable diarrhea of infancy, is an autosomal recessive inherited genetic disease characterized by severe early onset diarrhea, failure to thrive, facial dysmorphic features, woolly and brittle hair, immunodeficiency, liver disease, congenital heart disease, and mental retardation [1,2]
Studies have shown that mutations in tetratricopeptide repeat domain-containing protein 37 (TTC37) and the superkiller viralicidic activity 2 (SKIV2L) cause THES with an autosomal recessive pattern of inheritance
We are reporting a case of THES with a new variant mutation in the SKIV2L gene, which we did not find in the literature review

Summary

Introduction

Trichohepatoenteric syndrome (THES), or sometimes called syndromic diarrhea, a rare cause of intractable diarrhea of infancy, is an autosomal recessive inherited genetic disease characterized by severe early onset diarrhea, failure to thrive, facial dysmorphic features, woolly and brittle hair, immunodeficiency, liver disease, congenital heart disease, and mental retardation [1,2]. Genetic testing is the only way to confirm the diagnosis [8] In this manuscript, we are reporting a case of THES with a new variant mutation in the SKIV2L gene, which we did not find in the literature review. We are reporting a case of THES with a new variant mutation in the SKIV2L gene, which we did not find in the literature review This is a case of 41-month-old infant girl who presented with weight loss and intractable diarrhea associated with oral feeding. At the age of six months, she presented to another hospital afebrile with a loss of weight and had watery, non-bloody diarrhea, six to seven times per day Both endoscopy and biopsy from the duodenum were. We did not find the mentioned variant mutation in any previous literature (Table 1)

Literature pubmid

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