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-Reference-Cited by-同舟云学术

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

Published:2023-07-31 Issue: Volume:2023 Page:1-5
ISSN:2090-6595
Container-title:Case Reports in Hepatology
language:en
Short-container-title:Case Reports in Hepatology

Author:

Youssef Mariam¹^ORCID,Mascia Katherine L.²^ORCID,McGuire Brendan³^ORCID,Patel Chirag R.¹^ORCID,Al Diffalha Sameer¹^ORCID,Dhall Deepti¹^ORCID,Lee Goo¹^ORCID

Affiliation:

1. Department of Pathology, The University of Alabama at Birmingham Heersink School of Medicine, Birmingham, AL, USA

2. Department of Genetics, The University of Alabama at Birmingham Heersink School of Medicine, Birmingham, AL, USA

3. Department of Internal Medicine, The University of Alabama at Birmingham Heersink School of Medicine, Birmingham, AL, USA

Abstract

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.

Publisher

Hindawi Limited

Subject

General Medicine

Link

http://downloads.hindawi.com/journals/crihep/2023/3010131.pdf

Reference10 articles.

1. SCYL1 variants cause a syndrome with lowγ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

2. On CALFAN syndrome: report of a patient with a novel variant in SCYL1 gene and recurrent respiratory failure

3. Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

4. SCYL1 disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis of SCYL1

5. Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review

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