Case Report: Valproate-Induced Acute Liver Failure in a Teenager with POLG Mutation

A 1.7 MB PDF case report published by figshare admin karger on 2026-04-25. It details the clinical presentation, diagnosis, and emergency liver transplantation for a 17-year-old girl with a homozygous POLG mutation who developed acute liver failure after valproate therapy. The report includes findings from liver biopsy, whole-exome sequencing, and post-transplant outcomes.

Use Cases

• Study the clinical presentation of late-onset POLG-related valproate toxicity based on the detailed case narrative.
• Analyze the association between specific genetic mutations and severe drug reactions based on the identified POLG c.2243G>C genotype.
• Review diagnostic and treatment pathways for valproate-induced acute liver failure based on the described clinical and laboratory findings.
• Investigate post-liver transplantation outcomes in cases of drug-induced liver failure based on the patient's recovery details.

Strengths

• Report is a detailed, peer-reviewed clinical case study with specific genetic and clinical findings.
• Includes specific diagnostic results such as liver biopsy findings (microvesicular steatosis) and genetic sequencing (POLG c.2243G>C).
• File size is 1.7 MB, indicating a document of substantial detail.

Limitations

• Dataset consists of a single case report, limiting statistical power and generalizability.
• Row count and column-level documentation are absent; the data is presented in narrative form within a PDF.
• Description metadata is limited; actual data quality requires manual inspection after download.

Provenance

Source

figshare admin karger

Collection Method

Clinical case report.

Freshness

Last updated 2026-04-25 05:55:34; freshness should be verified.