A Case of Mild Trichohepatoenteric Syndrome With New Variant Mutation in SKIV2L Gene: Case Report.
| Autor: | Albar RF; Pediatrics, King Abdulaziz Medical City, Jeddah, SAU., Alghamdi MS; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU., Alsulimani EF; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU., Almasrahi AM; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU., Alsalmi KA; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2021 Nov 09; Vol. 13 (11), pp. e19404. Date of Electronic Publication: 2021 Nov 09 (Print Publication: 2021). |
| DOI: | 10.7759/cureus.19404 |
| Abstrakt: | 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. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2021, Albar et al.) |
| Databáze: | MEDLINE |
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