Case Report of Cornelia de Lange Syndrome with Gallstones and Kidney Stones
Author Information
Author(s): Choi So Yoon, Hong Yoo-Rha, Oh Chi-Eun, Lee Jung Hyun
Primary Institution: Kosin University Gospel Hospital
Conclusion
This case highlights the rare occurrence of both gallstones and kidney stones in a patient with Cornelia de Lange syndrome, emphasizing the need for tailored management.
Supporting Evidence
- The patient presented with symptoms of vomiting and abdominal pain.
- Genetic testing confirmed an NIPBL gene mutation associated with Cornelia de Lange syndrome.
- Post-operative analysis revealed that the stones were primarily composed of calcium oxalate.
Takeaway
A 9-year-old boy with a rare genetic condition had both gallstones and kidney stones, which is unusual. Doctors had to carefully treat him for both problems.
Methodology
The patient underwent abdominal ultrasound, CT scans, and genetic testing to confirm the diagnosis and assess the conditions.
Limitations
Genetic testing was limited to the NIPBL gene, leaving uncertainty about other potential causal variants.
Participant Demographics
A 9-year-old Korean male with developmental and intellectual disabilities.
Digital Object Identifier (DOI)
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