Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report
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CASE REPORT
Open Access
Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report Weiran Li1,2, Yu Zhu1,2, Qin Guo1,2* and Chaomin Wan1,2*
Abstract Background: Infantile liver failure syndrome-2 (ILFS2) is caused by neuroblastoma amplified sequence (NBAS) mutation. The disease is characterized by recurrent episodes of acute liver failure (ALF) or by liver crisis triggered by recurrent episodes of fever and complete recovery. Case presentation: Here, we describe the case of a Chinese girl with typical clinical manifestation of ILFS2 without exhibition of extrahepatic involvement. The patient harbored novel compound heterozygous mutations in the NBAS region (c.3386C > T (p.Ser1129Phe), c.1A > C (p.Met1Leu) and c.875G > A (p.Gly292Glu)), mutations which have not been previously reported. After administration of antipyretics and intravenous glucose and electrolyte administration, the patient recovered fully. Conclusion: Through the present study, we recommend that ILFS2 should be taken into consideration during the differential diagnosis of children with recurrent, fever-triggered ALF. While the definitive diagnosis of ILFS2 remains dependent on genetic sequencing and discovery of NBAS, early antipyretic treatment is recommended to prevent liver crisis. Keywords: NBAS, Acute liver failure, Infantile liver failure syndrome type 2, Whole exome sequencing
Background Acute liver failure (ALF) is a rare condition in children, however, it is associated with a higher risk of mortality. Although the etiology of ALF in about 50% of cases remains unexplained [1], hereditary metabolic disorders comprise of a large number of ALF in pediatric populations [2, 3]. Recently, biallelic mutations in the neuroblastoma amplified sequence (NBAS) were reported as a novel cause of infantile liver failure syndrome-2 (ILFS2). ILFS2 is an autosomal recessive genetic disease characterized by recurrent episodes of ALF or liver crisis triggered by fever. Previously, the mutations within the * Correspondence: [email protected]; [email protected] 1 Department of Paediatrics, West China Second University Hospital, Sichuan University, No 20, 3rd section of Renmin South Road, Chengdu 610041, PR China Full list of author information is available at the end of the article
NBAS were reported to be the cause of short stature, optic atrophy and Pelger-Huët anomaly of granulocytes (SOPH) syndrome in an isolated Russian yakut population [4]. Increasing research has reported that the phenotype spectrum of NBAS mutations ranges from isolated ILFS2 to a multi-systemic disease including short stature, skeletal dysplasia and optic atrophy [5–8]. Early administration of antipyretic and support therapy can effectively ameliorate the course of ILFS2 due to NBAS mutations, improving the prognosis [8, 9]. Thus, it is important to confirm the diagnosis of ILFS2 at the earliest stage possible. Here, we report a case of isolated ILFS2 caused by novel NBAS mutation in a Chinese girl aged 3 years and 8 months. T
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