LBSL Case Report: Infantile Neuropathic Pain and Vocal Cord Paresis

figshare admin karger published a 471.9 KB PDF case report on 2026-04-17. The report details a single case of infantile leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) in a Norwegian boy. It describes the patient's symptoms, genetic variants, and palliative care treatment.

Use Cases

• Study genotype-phenotype relationships in LBSL based on the described DARS2 gene variants.
• Analyze clinical presentation of the infantile LBSL form based on described symptoms like hypotonia and vocal cord paresis.
• Review palliative care approaches for severe neuropathic pain based on the reported use of ketamine.
• Compare disease progression patterns in LBSL based on the description of swift deterioration.

Strengths

• Data is openly licensed under CC-BY-4.0.
• The report includes detailed clinical and genetic findings for a rare disease case.
• The file is a 471.9 KB PDF, making it easily downloadable and viewable.

Limitations

• The dataset is a single case report, limiting statistical analysis and generalizability.
• Row count and column-level documentation are absent; data structure must be inferred from the PDF text.
• Description metadata is limited; actual data quality requires manual inspection after download.

Provenance

Source

figshare admin karger

Collection Method

Likely a published medical case report uploaded as supplementary material.

Freshness

Last updated 2026-04-17 05:55:12; freshness should be verified.

Geography

Norway (based on patient origin mentioned in the description)