SCYL1 deficiency: A rare entity with challenging neurological manifestations after liver transplantation.
Khaled WarasnheFigen ÖzçayEsra KılıçTaner SezerMehmet HaberalPublished in: Pediatric transplantation (2023)
PALF 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.
Keyphrases
- end stage renal disease
- replacement therapy
- ejection fraction
- genome wide
- newly diagnosed
- chronic kidney disease
- pulmonary embolism
- type diabetes
- prognostic factors
- peritoneal dialysis
- machine learning
- big data
- adipose tissue
- brain injury
- patient reported outcomes
- cerebral ischemia
- metabolic syndrome
- blood brain barrier
- smoking cessation
- subarachnoid hemorrhage