DiGeorge Syndrome Case Report: HLH and Spinal Neurofibroma

Single-case medical report describing a patient with DiGeorge syndrome who developed hemophagocytic lymphohistiocytosis (HLH) in infancy and a spinal neurofibroma in adolescence. The report details the patient's clinical history, genetic findings from an array-CGH, and treatment outcomes. The dataset is a 16.6 KB DOCX file.

Use Cases

• Extract clinical timeline details, such as age at HLH diagnosis and neurofibroma discovery, for rare disease progression studies.
• Analyze the genetic findings from the array-CGH test described in the case to study chromosome 22 deletions associated with DiGeorge syndrome.
• Use the documented treatment responses, including allogeneic hematopoietic stem cell transplantation and tumor resection, for comparative effectiveness research in rare conditions.

Strengths

• Provides a detailed, peer-reviewed clinical case report on a rare genetic disorder (DiGeorge syndrome).
• Documents the co-occurrence of two rare conditions (HLH and spinal neurofibroma) in a single patient, which is reported as a first instance.
• The data is shared under a permissive CC BY 4.0 license, allowing for reuse and redistribution.

Limitations

• The dataset is extremely small, consisting of a single case report (16.6 KB), limiting statistical analysis and generalizability.
• The data is unstructured text within a DOCX file, requiring manual extraction or NLP processing for quantitative analysis.
• The report focuses on a single patient, so findings may not be representative of the broader DiGeorge syndrome population.

Provenance

Source

figshare, authored by Ramona Tallone.

Collection Method

A single clinical case report.

Time Range

Covers the patient's life from infancy to at least 15 years of age.

Freshness

Last updated on 2026-03-20.