Hajdu Cheney syndrome; A novel NOTCH2 mutation in a Syrian child, and treatment with zolidronic acid: A case report and a literature review of treatments
| Autor: | Haya Deeb, Afaf Ahmad, Diana Alasmar |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty Hajdu–Cheney syndrome Bone density business.industry Osteoporosis Hajdu-Cheney syndrome Genetic disorder Case Report General Medicine Bisphosphonates Gene mutation medicine.disease Acroosteolysis Short stature NOTCH2 mutation medicine Surgery Craniofacial medicine.symptom business Zolidronic acid |
| Zdroj: | Annals of Medicine and Surgery |
| ISSN: | 2049-0801 |
| Popis: | Introduction Hajdu Cheney Syndrome (HCS) is a rare genetic disorder characterized by skeletal deformities such as acroosteolysis, osteoporosis, unique craniofacial features, and other systemic abnormalities. This syndrome is caused by NOTCH2 gene mutations, which cause an increase of osteoclast and osteoblast activity that leads to the increased bone resorption. Because of how rare the syndrome is and the vague onset of the symptoms, it can be challenging to make an early diagnosis. Case presentation We report a case of a female child with HCS who has a new NOTCH2 mutation sequence; (NM_024408.3:c.6463G > T) protein change (Glu2155*), and to our knowledge this is the first reported and diagnosed case in Syria. She presents with short stature, unique craniofacial features, scoliosis, kyphosis, and signs of osteoporosis, in addition to Patent Ductus Arteriosus. The patient was diagnosed with Hajdu Cheney Syndrome, and administered zolidronic acid, and she responded well to the treatment; showing signs of improved bone density and improvement in height, where her bone density improved from 0.23 to 0.31, and she gained 11 cm in height after the treatment. Conclusion Due to the rarity of the syndrome, there is no established guideline for treatment yet. Based on the pathophysiology of the syndrome that causes increased bone resorption, treatment with the Bisphosphonates group has yielded positive outcomes. Furthermore, we compare different treatments in the literature with their results. Highlights • Hajdu Cheney Syndrome is caused by rare genetic disorders involving the NOTCH-2 gene. • It presents with skeletal deformities, osteoporosis and unique facial features. • Whole Exome Sequencing is the best diagnostic tool to confirm the diagnosis. • We report a novel NOTCH2 Mutation: (NM_024408.3:c.6463G > T) protein change (Glu2155*). • Treatment with Bisphosphonates has shown significant improvement in the patient. |
| Databáze: | OpenAIRE |
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