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

A 2026 case report by Xinrui Wang documents a novel pathogenic mutation and the first known instance of concurrent Evans syndrome and Mucopolysaccharidosis type II in a toddler. The report details the patient's clinical presentation, laboratory findings, genetic sequencing results, and long-term follow-up after hematopoietic stem cell transplantation. The dataset is a 682.6 KB document file shared under a CC-BY-4.0 license.

Use Cases

• Study novel pathogenic mutations based on the reported compound heterozygous nonsense mutation in the IDS gene.
• Analyze clinical management strategies based on the documented use of hematopoietic stem cell transplantation.
• Investigate comorbid conditions based on the reported concurrent Evans syndrome and Mucopolysaccharidosis type II.
• Review diagnostic criteria based on the described laboratory examinations including enzyme activity and antibody tests.

Strengths

• Report includes specific genetic mutation details: c.380_383dup GCTA, p.Y128X.
• Documented long-term follow-up shows normalized IDS enzyme activity and no ES recurrence post-treatment.
• License is clearly stated as CC-BY-4.0, permitting reuse with attribution.

Limitations

• Dataset is a single case report (682.6 KB), representing a very limited sample size.
• Column-level documentation is absent; field semantics must be inferred after download.
• Data may reflect the specific bias inherent to a single, rare clinical case.

Provenance

Source

figshare

Collection Method

Clinical case documentation and genetic analysis.

Freshness

Last updated 2026-05-04 05:34:08; freshness should be verified.