Vol. 1 No. 1 (2025), Case Report
Vol. 1 No. 1 (2025)

Noonan Syndrome and Osteoporosis: A Comprehensive Case Study and Literature Review

Case Report
Published 2025-02-06
Mohamed Reyad
Department of Cardiology, Banner University Medical Center, Phoenix, Arizona, USA image/svg+xml
https://orcid.org/0000-0002-2973-2913
Mohamed R. Murad
Faculty of Medicine, Al-Azhar University, Cairo, Egypt image/svg+xml
https://orcid.org/0009-0007-3518-9703
Ahmed Sobhy
Intern, Faculty of Medicine, Kafr El-Sheikh University, Kafr El-Sheikh, Egypt. image/svg+xml
https://orcid.org/0009-0009-3173-4991
Ahmed Magdy Hassan
Faculty of Medicine, Tanta University, Tanta, Egypt. image/svg+xml
https://orcid.org/0009-0001-8063-2715
Omar Nassar
Williams East High School, Buffalo, New York, USA
https://orcid.org/0000-0001-8492-7433
Ahmed Hassan
Department of Cardiology, Suez Medical Complex, Ministry of Health and Population, Suez, Egypt image/svg+xml
https://orcid.org/0009-0006-3800-8667
Figure 1: This MRI image shows post-kyphoplasty changes at T12 with no evidence of acute complications and a stable mild chronic compression fracture of the L1 superior endplate.
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Keywords

Noonan syndrome
Osteoporosis
Genetic disorder
RASopathies
Bone fragility
Osteogenesis

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How to Cite

1.
Reyad M, Murad MR, Sobhy A, Hassan AM, Nassar O, Hassan A. Noonan Syndrome and Osteoporosis: A Comprehensive Case Study and Literature Review. ASIDE Case Reports. 2025;1(1):1-4. doi:10.71079/ASIDE.CR.02062520
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Abstract

Noonan syndrome (NS) is a genetic disorder caused by mutations in the RAS/MAPK signaling pathway, typically characterized by unique physical features, congenital heart defects, and short stature. Osteoporosis (OP), although uncommon in NS, can significantly impact patients' quality of life. We report the case of a 60s-year-old male with NS who experienced progressive osteoporosis over seven years. Dual-energy X-ray absorptiometry (DEXA) scans revealed a marked decline in bone mineral density (BMD) accompanied by multiple fractures. Despite normal vitamin D and parathyroid hormone intact levels, the patient’s BMD continued to deteriorate, leading to vertebral compression fractures that necessitated surgical intervention. This case highlights the importance of early osteoporosis screening and prompt management in NS patients to prevent severe complications. Further research is warranted to explore the mechanisms underlying bone fragility in NS and to develop targeted therapeutic strategies.

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References

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