CALFAN (Low γ-Glutamyl Transpeptidase (GGT) Cholestasis, Acute Liver Failure, and Neurodegeneration) Syndrome: A Case Report with 3-Year Follow-Up after Liver Transplantation in Early Adulthood

Autor:	Mariam Youssef, Katherine L. Mascia, Brendan McGuire, Chirag R. Patel, Sameer Al Diffalha, Deepti Dhall, Goo Lee
Jazyk:	angličtina
Rok vydání:	2023
Předmět:	Diseases of the digestive system. Gastroenterology RC799-869
Zdroj:	Case Reports in Hepatology, Vol 2023 (2023)
Druh dokumentu:	article
ISSN:	2090-6595
DOI:	10.1155/2023/3010131
Popis:	CALFAN syndrome is an extremely rare disease consisting of recurrent pediatric acute liver failure (PALF), neurodegenerative diseases, and skeletal abnormalities associated with SCYL1 gene mutation. To date, three of 18 patients reported underwent liver transplantation in infancy and early childhood (7–23 months). Here, we report a case of CALFAN syndrome with infantile onset, recurrent jaundice/PALF requiring liver transplantation in early adulthood. At the most recent follow-up, 3 years after transplantation, the patient is doing well.
Databáze:	Directory of Open Access Journals
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