Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report

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.

Liver involvement in neuroblastoma amplified sequence gene deficiency is not limited to acute injury: Fibrosis silently continues

“…To date, despite a wide variety of disparate mutations having been reported in the literature, patients with hepatic involvement have been consistently described to have a uniform clinical phenotype with distinct episodes of fever‐dependent ALF. Other characteristics of this phenotype have included onset in infancy, predominantly hepatocellular pattern of injury and complete recovery between the episodes 9,10 . While 4 of the patients in this study exhibited this more typical phenotype, 1 patient (patient 4) had an unusual presentation and course.…”

Acute infantile liver failure syndrome type 2 in a 2.5‐year‐old boy: A case report

“…Symptoms of cardiomyopathy (heart muscle disease) and seizures may occur in 1–4% of cases 10 . Further investigations showed that mutations of the NBAS gene have a wide range of phenotypes and include brain involvement, seizures, connective tissue other than bone, immune system, cardiomyopathy, autoimmune disorders of the digestive tract and liver, interstitial lung disease, and neuroblastoma 10,12 …”

“…10 Further investigations showed that mutations of the NBAS gene have a wide range of phenotypes and include brain involvement, seizures, connective tissue other than bone, immune system, cardiomyopathy, autoimmune disorders of the digestive tract and liver, interstitial lung disease, and neuroblastoma. 10,12 Type 1 infantile liver failure syndrome (ILFS1) is caused by mutations in the LARS gene (MIM: 615438). It is characterized by precocious growth failure, recurrent liver dysfunction, hypoalbuminemia, increased lactate, microcytic anemia, seizures, and abnormal brain MRI similar to mitochondrial disorders.…”

Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies

“…26 There are no published management guidelines for NBAS-related RALF. Based on published case reports and series', NBAS-related acute liver failure is usually self-limiting and resolves with conservative and supportive management in most, 7,[27][28][29] but not all 30 individuals. Invasive investigations such as liver biopsy are generally not required.…”