DiGeorge Syndrome Case Report: HLH and Spinal Neurofibroma

Single-case medical report detailing a patient with DiGeorge syndrome who developed hemophagocytic lymphohistiocytosis (HLH) in infancy and a spinal neurofibroma in adolescence. The report includes clinical history, diagnostic findings, and treatment outcomes. Row and column counts are unknown as the data is a narrative document.

Use Cases

• Extract clinical timelines and outcomes for rare disease co-occurrence studies focusing on HLH and neurofibroma.
• Analyze textual descriptions of dysmorphic features and psychomotor delay for phenotypic pattern recognition in DiGeorge syndrome.
• Identify diagnostic procedures mentioned, such as array-CGH and imaging, for methodology reviews in genetic disorders.

Strengths

• Documents a first-reported case of DiGeorge syndrome with both early-onset HLH and a late-occurring spinal neurofibroma.
• Provides detailed clinical narrative spanning patient history from infancy to age 20.
• Released under a permissive CC BY 4.0 license for reuse.

Limitations

• Contains data from only a single patient case, limiting statistical analysis.
• Data is unstructured text within a DOCX file, requiring manual extraction for computational use.
• The 17.6 KB file size indicates a very short document with limited scope.

Provenance

Source

figshare, authored by Ramona Tallone.

Collection Method

Single clinical case report.

Time Range

Covers patient history from infancy to age 20.

Freshness

Last updated in March 2026.