Type III Mixed Cryoglobulinemia and Antiphospholipid Syndrome in a Patient with Partial DiGeorge Syndrome
Author Information
Author(s): Alice D. Chang, Raffi Tachdjian, Kerry Gallagher, Deborah K. McCurdy, Charles Lassman, E. Richard Stiehm, Ora Yadin
Primary Institution: Mattel Children's Hospital, University of California, Los Angeles, CA, USA
Hypothesis
This study investigates the occurrence of antiphospholipid syndrome and type III mixed cryoglobulinemia in a patient with partial DiGeorge syndrome.
Conclusion
The patient successfully recovered from type III mixed cryoglobulinemia and antiphospholipid syndrome after treatment, suggesting a possible link to a Streptococcal infection.
Supporting Evidence
- The patient had a history of Tetralogy of Fallot and was diagnosed with partial DiGeorge syndrome.
- Coagulation studies revealed homozygous MTHFR mutations and elevated antiphospholipid antibodies.
- Renal biopsy showed diffuse proliferative glomerulonephritis consistent with cryoglobulinemia.
Takeaway
A 14-year-old boy with a genetic condition got very sick from a rare blood problem, but doctors helped him get better with medicine.
Methodology
The patient was evaluated through various immunologic and coagulation studies, renal biopsy, and imaging techniques.
Limitations
The study is based on a single case report, limiting generalizability.
Participant Demographics
14-year-old Hispanic male with partial DiGeorge syndrome.
Digital Object Identifier (DOI)
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