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      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

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          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.

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          Acute liver failure in children: the first 348 patients in the pediatric acute liver failure study group.

          Norberto Santana-Rodriguez, Steven Lobritto, Kathleen Schwarz … (2006)
          To determine short-term outcome for children with acute liver failure (ALF) as it relates to cause, clinical status, and patient demographics and to determine prognostic factors. A prospective, multicenter case study collecting demographic, clinical, laboratory, and short-term outcome data on children from birth to 18 years with ALF. Patients without encephalopathy were included if the prothrombin time and international normalized ratio remained > or = 20 seconds and/or >2, respectively, despite vitamin K. Primary outcome measures 3 weeks after study entry were death, death after transplantation, alive with native liver, and alive with transplanted organ. The cause of ALF in 348 children included acute acetaminophen toxicity (14%), metabolic disease (10%), autoimmune liver disease (6%), non-acetaminophen drug-related hepatotoxicity (5%), infections (6%), other diagnosed conditions (10%); 49% were indeterminate. Outcome varied between patient sub-groups; 20% with non-acetaminophen ALF died or underwent liver transplantation and never had clinical encephalopathy. Causes of ALF in children differ from in adults. Clinical encephalopathy may not be present in children. The high percentage of indeterminate cases provides an opportunity for investigation.
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            Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.

            Wolfgang M Schmidt, S Lane Rutledge, Rebecca Schüle … (2015)
            Hereditary ataxias comprise a group of genetically heterogeneous disorders characterized by clinically variable cerebellar dysfunction and accompanied by involvement of other organ systems. The molecular underpinnings for many of these diseases are widely unknown. Previously, we discovered the disruption of Scyl1 as the molecular basis of the mouse mutant mdf, which is affected by neurogenic muscular atrophy, progressive gait ataxia with tremor, cerebellar vermis atrophy, and optic-nerve thinning. Here, we report on three human individuals, from two unrelated families, who presented with recurrent episodes of acute liver failure in early infancy and are affected by cerebellar vermis atrophy, ataxia, and peripheral neuropathy. By whole-exome sequencing, compound-heterozygous mutations within SCYL1 were identified in all affected individuals. We further show that in SCYL1-deficient human fibroblasts, the Golgi apparatus is massively enlarged, which is in line with the concept that SCYL1 regulates Golgi integrity. Thus, our findings define SCYL1 mutations as the genetic cause of a human hepatocerebellar neuropathy syndrome.
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              SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure and neurodegeneration (CALFAN)

              Dominic Lenz, Patricia McClean, Aydan Kansu … (2018)
              Purpose Biallelic mutations in SCYL1 were recently identified to cause a syndromal disorder characterized by peripheral neuropathy, cerebellar atrophy, ataxia and recurrent episodes of liver failure. The occurrence of SCYL1 deficiency among patients with previously undetermined infantile cholestasis or acute liver failure has not been studied; furthermore, little is known regarding the hepatic phenotype. Methods We aimed at identifying patients with SCYL1 variants within an exome sequencing study of individuals with infantile cholestasis or acute liver failure of unknown etiology. Deep clinical and biochemical phenotyping plus analysis of liver biopsies and functional studies on fibroblasts were performed. Results Seven patients from five families with biallelic SCYL1 variants were identified. The main clinical phenotype was recurrent low γ-glutamyl-transferase (GGT) Cholestasis or Acute Liver Failure with onset in infancy And a variable Neurological phenotype of later onset (CALFAN syndrome). Liver crises were triggered by febrile infections and were transient, but fibrosis developed. Functional studies emphasize that SCYL1 deficiency is linked to impaired intracellular trafficking. Conclusion SCYL1 deficiency can cause recurrent low GGT cholestatic liver dysfunction in conjunction with a variable neurological phenotype. Similar to NBAS deficiency, it’s a member of the emerging group of congenital disorders of intracellular trafficking causing hepatopathy.
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                Author and article information

                Contributors
                Goo Lee:
                ORCID: https://orcid.org/0000-0003-3025-5234
                Journal
                Journal ID (nlm-ta): Case Reports Hepatol
                Journal ID (iso-abbrev): Case Reports Hepatol
                Journal ID (publisher-id): CRIHEP
                Title: Case Reports in Hepatology
                Publisher: Hindawi
                ISSN (Print): 2090-6587
                ISSN (Electronic): 2090-6595
                Publication date Collection: 2023
                Publication date (Electronic): 31 July 2023
                Volume: 2023
                Electronic Location Identifier: 3010131
                Affiliations
                1Department of Pathology, The University of Alabama at Birmingham Heersink School of Medicine, Birmingham, AL, USA
                2Department of Genetics, The University of Alabama at Birmingham Heersink School of Medicine, Birmingham, AL, USA
                3Department of Internal Medicine, The University of Alabama at Birmingham Heersink School of Medicine, Birmingham, AL, USA
                Author notes

                Academic Editor: Mauro Vigano

                Author information
                https://orcid.org/0000-0002-8516-7058
                https://orcid.org/0000-0001-6252-2910
                https://orcid.org/0000-0002-1531-4112
                https://orcid.org/0000-0002-6756-6100
                https://orcid.org/0000-0002-3095-4089
                https://orcid.org/0000-0002-9940-2039
                https://orcid.org/0000-0003-3025-5234
                Article
                DOI: 10.1155/2023/3010131
                PMC ID: 10406563
                SO-VID: fa83ac3e-20ac-4dc1-8953-4bae93dafabe
                Copyright statement: Copyright © 2023 Mariam Youssef et al.
                License:

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 10 January 2023
                Date revision received : 18 April 2023
                Date accepted : 24 June 2023
                Categories
                Subject: Case Report

                Data availability:

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