SCYL1 deficiency: A rare entity with challenging neurological manifestations after liver transplantation

Abstract

AbstractBackgroundPediatric acute liver failure (PALF) with undetermined etiology is associated with higher liver transplantation and lower spontaneous recovery (transplant‐free) rates. The diagnostic odyssey in PALF cases hinders appropriate management and follow‐up after liver transplantation. Advances in whole exome sequencing analysis have already been successful at identifying new genetic causes of PALF.Case PresentationWe report a 17‐year‐old girl who underwent liver transplantation at the age of 7 months due to acute liver failure and presented later with abnormal neurological manifestations, that is, gait disturbances, dysarthria, and mental retardation that led us to the diagnosis of SCYL1 deficiency.ConclusionPALF cases should be screened for possible underlying genetic disorders. Genetic studies and reanalysis of whole‐genome sequencing data may help identify new cases and clarify the genotype–phenotype correlation. SCYL1 deficiency should be suspected in PALF patients who develop neurological involvement after LT. Early diagnosis is vital for proper management of ALF crises in SCYL1 deficiency patients. Despite the reported favorable outcomes of ALF crises in SCYL1 deficiency, liver transplantation decision should be discussed on a case‐by‐case basis.