Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review |
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| Affiliation: | 1. Department of pediatric gastroenterology and hepatology, multidisciplinary pediatric, La-Timone children hospital, Aix-Marseille university, Assistance Publique–Hôpitaux de Marseille, 13385 Marseille cedex 05, France;2. Reference centre for inborn errors of metabolism, La-Timone children hospital, Aix-Marseille university, Assistance Publique–Hôpitaux de Marseille, 13385 Marseille cedex 05, France;3. Department of medical genetics, La-Timone children hospital, Aix-Marseille university, Assistance Publique–Hôpitaux de Marseille, 13385 Marseille cedex 05, France;4. Department of pediatric surgery, La-Timone children hospital, Aix-Marseille university, Assistance Publique–Hôpitaux de Marseille, 13385 Marseille cedex 05, France;5. Department of medical genetics, Paris-South university hospitals, Assistance Publique–Hôpitaux de Paris, 94270 Le Kremlin-Bicêtre, France;6. Department of pediatric hepatology, gastroenterology and nutrition, hôpital femme-mère-enfant, hospices civils de Lyon, 69677 Bron, France;3. Department of Neurology, Hospital Santa Creu I Pau, Barcelona, Spain;4. Department of Neurology, Hospital 12 de Octubre, Madrid, Spain;5. Department of Neurology, Fundación Jimenez Diaz, Madrid, Spain;6. Department of Neurology, Hospital Ruber Internacional, Madrid, Spain;7. Department of Neurology, Hospital Universitario Donostia, San Sebastián, Spain;8. Department of Neurology, Clinica Universidad de Navarra, Pamplona, Spain;9. Fundación para Investigaciones Neurológicas, Madrid, Spain;1. Neurology Department, Hospital Ramón y Cajal, Madrid, Spain;2. Instituto Ramón y Cajal de Investigación IRICYS, Spain;1. Department of Geriatrics and Neurology, The Second Affiliated Hospital and Yuying Children''s Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China;2. Department of Preventive Medicine, School of Public Health, Wenzhou Medical University, Wenzhou, Zhejiang, China;3. Key Laboratory of Watershed Science and Health of Zhejiang Province, Wenzhou Medical University, Wenzhou, Zhejiang, China;1. Vascular Biology Lab, AU-KBC Research Centre, MIT Campus of Anna University, Chennai, India;2. Department of Biotechnology, Anna University, Chennai, India;3. Defence Institute of Physiology and Allied Sciences, DIPAS, Delhi, India;4. Department of Pathology, LSU Health Sciences Center, Shreveport USA;1. Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China;2. Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München, Germany;3. Department of Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital Würzburg, Germany;4. Departments of Pathology and Radiology, University of São Paulo Medical School, São Paulo, Brazil;5. Department of Neurology, University of California, San Francisco, USA;6. Praça Amadeu Amaral, 27, cj 31, Bela Vista, São Paulo, Brazil;7. Department of Radiology, University of São Paulo Medical School, São Paulo, Brazil;8. Dr. Senckenbergisches Chronomedizinisches Institut, Goethe-Universität, Frankfurt/Main, Germany;9. Department of Pathology and Medical Biology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands;10. Center for Neuropathology and Prion Research, Ludwig-Maximilians-University Munich, Germany;11. Department of Neuroanatomy, Ludwig-Maximilians-Universität München, Germany;12. Clienia Privatklinik für Psychiatrie und Psychotherapie, Oetwil am See, Switzerland;13. Department of Psychiatry and Psychotherapy, Ludwig-Maximilians-University Munich, Germany |
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| Abstract: | Acute liver failure (ALF) in childhood is a life-threatening emergency. ALF is often caused by drug toxicity, autoimmune hepatitis, inherited metabolic diseases, and infections. However, despite thorough investigations, a cause cannot be determined in approximately 50% of cases. Here, we report three cases with recurrent ALF caused by NBAS and SCYL1 pathogenic variants. These patients did not present with any other phenotypic sign usually associated with NBAS and SCYL1 pathogenic variants. Two of them underwent liver transplantation and are healthy without recurrence of ALF. We propose NBAS and SCYL1 genetic analysis in children with unexplained fever-triggered recurrent ALF even without a typical phenotype. |
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| Keywords: | Acute liver failure Recurrent acute liver failure NBAS SCYL1 Liver transplantation Pediatric |
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