Chances of Liver Transplantation in a Patient With Transaldolase Deficiency Complicated by Hepatopulmonary Syndrome.
| Autor: | Fallata E; Department of Pediatrics, East Jeddah General Hospital, Jeddah, SAU., Alamri AM; Department of Pediatrics, Division of Gastroenterology, East Jeddah General Hospital, Jeddah, SAU., Alrabee HA; Department of Pediatrics, East Jeddah General Hospital, Jeddah, SAU., Alghamdi AA; Department of Pediatrics, Division of Cardiology, East Jeddah General Hospital, Jeddah, SAU., Alsaearei A; Department of Pediatrics, Division of Gastroenterology, East Jeddah General Hospital, Jeddah, SAU. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2023 Feb 18; Vol. 15 (2), pp. e35150. Date of Electronic Publication: 2023 Feb 18 (Print Publication: 2023). |
| DOI: | 10.7759/cureus.35150 |
| Abstrakt: | Eyaid's syndrome or Transaldolase Deficiency (TD) (OMIM 606003) is a rare autosomal recessive inborn error of metabolism. In this report, we describe the case of an eight-year-old Saudi girl with a history of hepatosplenomegaly since infancy, who presented to the emergency department for a short history of cough and worsening cyanosis. She had growth retardation, facial dysmorphia, cardiac defect, neutropenia, and thrombocytopenia, besides hepatosplenomegaly. A thorough investigation led to the diagnosis of hepatopulmonary syndrome and whole exome sequencing showed a homozygous frameshift variant in the TALDO1gene, c.793del, p.Gln265fs. Thus, the patient was diagnosed with TD complicated with hepatopulmonary syndrome, and the indication of liver transplantation was discussed. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2023, Fallata et al.) |
| Databáze: | MEDLINE |
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