Abstract
Two genetic disorders (TRMU and SCYL1) explaining transient infantile liver failure in one patient
Highlights
Paediatric acute liver failure (PALF) has an extremely heterogeneous aetiology, with some genetic disorders being associated with recurrent/transient episodes of infantile hepatopathy
Paediatric acute liver failure (PALF) is a potentially devastating condition which occurs in previously healthy children of all ages and frequently leads to a rapid clinical deterioration [1]
Recurrent reversible episodes of severe liver injury (RALF), with recovery of hepatic function between crises, are frequently related with heritable disorders, despite being often triggered by virallike illness. (1,5) These inherited aetiologies include mitochondrial diseases, genetic disorders involved in transport of vesicles in the endoplasmic reticulum and Golgi apparatus (NBAS, RINT1, SCYL1), Wolcott-Rallison syndrome, pathogenic variations in dihydrolipoamide dehydrogenase (DLD) and aminoacyl-tRNA synthetases (LARS, MARS) genes [5]
Summary
Paediatric acute liver failure (PALF) is a potentially devastating condition which occurs in previously healthy children of all ages and frequently leads to a rapid clinical deterioration [1]. We report a patient who experienced a severe episode of liver failure with complete spontaneous recovery, and in whom were discovered two genetic disorders possibly explaining this occurrence: the mitochondrial disease due to mutations in TRMU gene and the CALFAN syndrome secondary to mutations in SCYL1 gene. There was normalization of liver function, without cholestasis and cytolysis, and no more events of liver failure occurred When she was 28 months of age, parents noticed matutinal transient tremor and episodes of sudden apathy, not related with epilepsy. In a genetic panel including genes related with ataxia, it was recognized premature termination mutation in homozygosity: c.1636C>T (p.Gln546*) in exon 12 of SCYL1 gene She is 25 years-old and presents the previous neurologic manifestations, with worsening of tremor, but without cognitive impairment (she is completing her university education). The patient maintains evaluation in our reference centre of inherited metabolic diseases, having the transition of care to adult team
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
