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[A case of progressive ossifying myositis caused by ACVR1 gene mutation]
Si-Qin Xie1, Xiao-Fang Ding1, Bing Zhang1
1Department of Pediatrics, Hunan Normal University First Affiliated Hospital/Hunan Provincial People's Hospital, Changsha 410005, China.
Insights
A rare genetic disorder, progressive ossifying myositis, caused progressive muscle ossification in a child due to an ACVR1 gene mutation. Early diagnosis and understanding of this condition are crucial for management.
Area of Science:
- Genetics
- Orthopedics
- Pediatrics
Background:
- Progressive ossifying myositis is a rare genetic disorder characterized by heterotopic ossification of muscles and connective tissues.
- The condition often presents in childhood with progressive immobility and the formation of bone in soft tissues, frequently triggered by minor trauma.
Purpose of the Study:
- To present a case of progressive ossifying myositis in a young child.
- To detail the clinical presentation, diagnostic findings, and genetic basis of the condition.
- To provide a clinical reference for the etiology, diagnosis, and treatment of progressive ossifying myositis.
Main Methods:
- Clinical case presentation of a 2-year-and-10-month-old boy with multiple neck and chest masses.
- Diagnostic imaging including Magnetic Resonance Imaging (MRI) and Computed Tomography (CT) scans.
- Genetic testing to identify mutations in the ACVR1 gene.
Main Results:
- The patient presented with progressive muscle masses and limited joint movement.
- Imaging revealed muscle swelling with ossifications, consistent with heterotopic ossification.
- Genetic testing confirmed a mutation in the ACVR1 gene, establishing the diagnosis of progressive ossifying myositis.
Conclusions:
- Progressive ossifying myositis, linked to ACVR1 gene mutations, can manifest in early childhood with significant musculoskeletal impairment.
- Accurate diagnosis relies on a combination of clinical evaluation, advanced imaging, and genetic analysis.
- This case underscores the importance of recognizing the signs and understanding the genetic underpinnings for effective clinical management.
Abstract:
A 2-year-and-10-month-old boy presented with multiple masses in the neck and chest for over 3 months. The child had a history of unstable walking, with hard lumps visible at the injury sites after falls, which would resolve on their own. Following a recent injury, a mass was discovered in the posterior neck, protruding above the skin surface and accompanied by limited joint movement. Gradually, new masses were found on the left side of the neck, back near the scapular lower angle, in the scapular fossa, and along the left axillary midline. Magnetic resonance imaging examination showed diffuse low signal on T1-weighted images and high signal on T2-weighted images in the bilateral posterior neck and back muscles two months ago. A CT scan revealed muscle swelling, with areas of patchy low density and multiple nodular high-density ossifications within some muscles. Genetic testing results indicated a mutation in the ACVR1 gene, leading to the final diagnosis of progressive ossifying myositis in this patient. This article summarizes the etiology, diagnosis, and treatment of one case of progressive ossifying myositis, providing a reference for clinicians.
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