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Hajdu-Cheney Syndrome: A Report on Successful Halting of Acro-osteolysis
Gopinath Duraiswamy1, Munis Ashraf2, Senthil Nathan Sambandam3
1Department of Orthopaedic Surgery, Consultant Orthopaedic Surgeon, Dr. Rela Institute and Medical Center, Chennai, India.
Insights
Hajdu-Cheney syndrome involves bone resorption. This study identified a NOTCH2 mutation and used antiresorptive treatments to halt bone loss in a patient and his father, with positive 2-year follow-up results.
Area of Science:
- Genetics
- Orthopedics
- Rare Diseases
Background:
- Acro-osteolysis, characterized by bone resorption, presents a clinical challenge.
- Hajdu-Cheney syndrome is a rare genetic disorder associated with acro-osteolysis.
- Understanding the genetic basis and effective management is crucial for patient outcomes.
Purpose of the Study:
- To report the identification and management of acro-osteolysis in a patient with Hajdu-Cheney syndrome.
- To document the efficacy of antiresorptive measures in halting bone resorption.
- To present 2-year follow-up findings in a familial case.
Main Methods:
- Genetic analysis to identify the causative mutation.
- Treatment with antiresorptive agents to inhibit bone resorption.
- Clinical assessment and imaging for 2-year follow-up.
Main Results:
- A NOTCH2 mutation was identified as the cause of Hajdu-Cheney syndrome.
- Antiresorptive treatment successfully halted active bone resorption.
- Positive clinical outcomes were observed over a 2-year follow-up period in both the patient and his father.
Conclusions:
- Identification of the NOTCH2 mutation is key for diagnosing Hajdu-Cheney syndrome.
- Antiresorptive therapies are effective in managing bone resorption associated with this condition.
- Genetic and antenatal counseling are recommended due to the inheritance risk.
Case:
The phenomenon of acro-osteolysis often intrigues clinicians and patients alike, as it causes bone resorption. One such condition is Hajdu-Cheney syndrome. We report our experience in identifying and halting the active bone resorption in a patient and his father with 2-year follow-up results.
Conclusion:
Management included identification of the NOTCH2 mutation and treatment with antiresorptive measures. In addition, genetic counseling and antenatal counseling are recommended to explain the risk of inheritance.
