Recurrent Acute Liver Failure Associated with Novel Mutation: A Case Report

Overview

Journal World J Clin Cases

Publisher Baishideng Publishing Group

Specialty General Medicine

Date 2019 Mar 8

PMID 30842961

Citations 8

Authors

Jia-Qi Li

Jing-Yu Gong

A S Knisely

Mei-Hong Zhang

Jian-She Wang

Affiliations

Soon will be listed here.

Abstract

Background: Pediatric recurrent acute liver failure (RALF) with recovery between episodes is rare. Causes include autoimmune disease, which may flare and subside; intermittent exposure to toxins, as with ingestions; and metabolic disorders, among them the fever-associated crises ascribed to biallelic mutations in , with RALF beginning in infancy. disease manifest with RALF, as known to date, includes central and peripheral neurologic and muscular morbidity (hepatocerebellar neuropathy syndrome). Primary ventilatory and skeletal diseases also have been noted in some reports.

Case Summary: We describe a Han Chinese boy in whom fever-associated RALF began at age 14 mo. Bilateral femoral head abnormalities and mild impairment of neurologic function were first noted aged 8 years 6 mo. Liver biopsy after the third RALF episode (7 years) and during resolution of the fourth RALF episode (8 years 6 mo) found abnormal architecture and hepatic fibrosis, respectively. Whole-exome sequencing revealed homozygosity for the novel frameshift mutation c.92_93insGGGCCCT, p.(H32Gfs*20) in (parental heterozygosity confirmed).

Conclusion: Our findings expand the mutational and clinical spectrum of disease. In our patient a substantial neurologic component was lacking and skeletal disease was identified relatively late.

Citing Articles

Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.

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A Rare Case of Spinocerebellar Ataxia Autosomal Recessive 21 Presented with Liver Disease.

Zare N, Saneian H, Khademian M Adv Biomed Res. 2023; 12:230.

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Recurrent Acute Liver Failure in a Bahraini Child With a Novel Mutation of Spinocerebellar Ataxia-21.

Isa H, Alkaabi J, Alhammadi W, Marjan K Cureus. 2023; 15(3):e36249.

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mTORC1 controls Golgi architecture and vesicle secretion by phosphorylation of SCYL1.

Kaeser-Pebernard S, Vionnet C, Mari M, Sankar D, Hu Z, Roubaty C Nat Commun. 2022; 13(1):4685.

PMID: 35948564 PMC: 9365812. DOI: 10.1038/s41467-022-32487-7.

References

Liu S, Lane W, Lienhard G . Cloning and preliminary characterization of a 105 kDa protein with an N-terminal kinase-like domain. Biochim Biophys Acta. 2000; 1517(1):148-52. DOI: 10.1016/s0167-4781(00)00234-7. View

Kato M, Yano K, Morotomi-Yano K, Saito H, Miki Y . Identification and characterization of the human protein kinase-like gene NTKL: mitosis-specific centrosomal localization of an alternatively spliced isoform. Genomics. 2002; 79(6):760-7. DOI: 10.1006/geno.2002.6774. View

Burman J, Bourbonniere L, Philie J, Stroh T, Dejgaard S, Presley J . Scyl1, mutated in a recessive form of spinocerebellar neurodegeneration, regulates COPI-mediated retrograde traffic. J Biol Chem. 2008; 283(33):22774-86. DOI: 10.1074/jbc.M801869200. View

Burman J, Hamlin J, McPherson P . Scyl1 regulates Golgi morphology. PLoS One. 2010; 5(3):e9537. PMC: 2832016. DOI: 10.1371/journal.pone.0009537. View

Chafe S, Mangroo D . Scyl1 facilitates nuclear tRNA export in mammalian cells by acting at the nuclear pore complex. Mol Biol Cell. 2010; 21(14):2483-99. PMC: 2903676. DOI: 10.1091/mbc.e10-03-0176. View

Casey J, McGettigan P, Lynam-Lennon N, McDermott M, Regan R, Conroy J . Identification of a mutation in LARS as a novel cause of infantile hepatopathy. Mol Genet Metab. 2012; 106(3):351-8. DOI: 10.1016/j.ymgme.2012.04.017. View

Hamlin J, Schroeder L, Fotouhi M, Dokainish H, Ioannou M, Girard M . Scyl1 scaffolds class II Arfs to specific subcomplexes of coatomer through the γ-COP appendage domain. J Cell Sci. 2014; 127(Pt 7):1454-63. DOI: 10.1242/jcs.136481. View

Schwarz J, Cooper D, Schuelke M, Seelow D . MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014; 11(4):361-2. DOI: 10.1038/nmeth.2890. View

Haack T, Staufner C, Kopke M, Straub B, Kolker S, Thiel C . Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. Am J Hum Genet. 2015; 97(1):163-9. PMC: 4572578. DOI: 10.1016/j.ajhg.2015.05.009. View

10.

Staufner C, Haack T, Kopke M, Straub B, Kolker S, Thiel C . Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. J Inherit Metab Dis. 2015; 39(1):3-16. DOI: 10.1007/s10545-015-9896-7. View

11.

Capo-Chichi J, Mehawej C, Delague V, Caillaud C, Khneisser I, Hamdan F . Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay. Eur J Med Genet. 2015; 58(12):637-41. DOI: 10.1016/j.ejmg.2015.11.005. View

12.

Schmidt W, Rutledge S, Schule R, Mayerhofer B, Zuchner S, Boltshauser E . Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia. Am J Hum Genet. 2015; 97(6):855-61. PMC: 4678415. DOI: 10.1016/j.ajhg.2015.10.011. View

13.

Kortum F, Marquardt I, Alawi M, Korenke G, Spranger S, Meinecke P . Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype. Pediatrics. 2016; 139(1). DOI: 10.1542/peds.2016-0550. View

14.

Smith E, Radtke K, Rossi M, Shinde D, Darabi S, El-Khechen D . Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017; 38(5):600-608. PMC: 5655771. DOI: 10.1002/humu.23183. View

15.

Li J, Qiu Y, Gong J, Dou L, Lu Y, Knisely A . Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study. BMC Gastroenterol. 2017; 17(1):77. PMC: 5477288. DOI: 10.1186/s12876-017-0636-3. View

16.

Calvo P, Tandoi F, Haak T, Brunati A, Pinon M, Dell Olio D . NBAS mutations cause acute liver failure: when acetaminophen is not a culprit. Ital J Pediatr. 2017; 43(1):88. PMC: 5613325. DOI: 10.1186/s13052-017-0406-4. View

17.

Lenz D, McClean P, Kansu A, Bonnen P, Ranucci G, Thiel C . SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). Genet Med. 2018; 20(10):1255-1265. PMC: 5989927. DOI: 10.1038/gim.2017.260. View

18.

Shohet A, Cohen L, Haguel D, Mozer Y, Shomron N, Tzur S . Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation. Eur J Hum Genet. 2018; 27(2):263-268. PMC: 6336772. DOI: 10.1038/s41431-018-0268-2. View

19.

Spagnoli C, Frattini D, Salerno G, Fusco C . On CALFAN syndrome: report of a patient with a novel variant in SCYL1 gene and recurrent respiratory failure. Genet Med. 2018; 21(7):1663-1664. DOI: 10.1038/s41436-018-0389-6. View

20.

FRANKENBURG W . The Denver developmental screening test. Dev Med Child Neurol. 1969; 11(2):260-2. View