Recurrent Liver Failure due to SCYL1 Deficiency: A Report of 2 Cases and a Review of the Literature

This study reports two children with biallelic, novel, protein-truncating SCYL1 variants, presenting with recurrent liver failure beginning in early infancy. Hepatic crises were relapsing with interval biochemical recovery, while hepatosplenomegaly and neurological features persisted. A structured review identified 25 previously reported cases defining the natural history and multisystem spectrum of the disorder. Febrile infections frequently precipitated episodes, although not all progressed to liver failure. Liver transplantation prevented further hepatic crises but did not halt neurological progression. Episodic thrombocytopenia observed during hepatic crises in our patients suggests an under-recognized hematological manifestation of SCYL1 deficiency.