Case Report: Concurrent Evans Syndrome and Mucopolysaccharidosis Type II in a Toddler

A single clinical case report documents a 2-year-old male patient diagnosed with concurrent Evans syndrome and Mucopolysaccharidosis type II. The report includes laboratory findings, a novel compound heterozygous nonsense mutation in the IDS gene (c.380_383dup GCTA, p.Y128X), and treatment outcomes following hematopoietic stem cell transplantation. Authored by Xinrui Wang and published on figshare under CC-BY-4.0 license in May 2026.

Use Cases

• Study the clinical presentation of concurrent Evans syndrome and Mucopolysaccharidosis type II based on the described patient symptoms and lab results.
• Analyze the efficacy of hematopoietic stem cell transplantation for this rare comorbidity based on the reported follow-up outcomes.
• Investigate novel pathogenic mutations in the IDS gene based on the identified compound heterozygous nonsense variant.

Strengths

• Report includes specific laboratory values such as decreased hemoglobin, platelet counts, and urinary glycosaminoglycan levels.
• Documents a novel pathogenic mutation (c.380_383dup GCTA, p.Y128X) in the IDS gene.
• Provides long-term follow-up data on treatment efficacy with hematopoietic stem cell transplantation.

Limitations

• Dataset is a single case report (43.7 KB DOCX file), representing a sample size of one patient.
• Column-level documentation is absent; field semantics must be inferred from the narrative text.
• Data may reflect a specific, rare clinical presentation, limiting generalizability.

Provenance

Source

figshare

Collection Method

Clinical case study and whole exome sequencing.

Freshness

Last updated 2026-05-04 05:34:07.