Melorheostosis affecting contiguous multi-segment thoracic vertebrae resulting in bilateral lower limb paralysis: A case report

Melorheostosis affecting contiguous multi-segment thoracic vertebrae resulting in bilateral lower limb paralysis: A case report | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Case Report Melorheostosis affecting contiguous multi-segment thoracic vertebrae resulting in bilateral lower limb paralysis: A case report Hongqi Zhang, Junlin Long, Tao Li, Qile Gao, Mingxing Tang This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-5777361/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Background: Melorheostosis is a non-hereditary, benign, sclerotic bone dysplasia that typically affects a single limb, involving both bones and adjacent soft tissues. It is rare in both clinical and radiological presentations.As the disease rarely involves the spine and exhibits inconspicuous early symptoms, it is frequently overlooked, leading to delayed diagnosis and missed treatment windows. Recently, we successfully diagnosed and managed a patient. Case presentation: A 30-year-old male presented with a one-year history of progressive numbness and weakness in both lower limbs without obvious cause. Following a full-length X-ray of the lower limbs, a diagnosis of melorheostosis was considered, and conservative drug therapy was initiated. However, his symptoms worsened, progressing to paraplegia.At our hospital, further spine computed tomography (CT) and magnetic resonance imaging (MRI) revealed multiple signal changes in the thoracic vertebrae, spinal canal stenosis at the T6-T8 levels, and spinal cord degeneration at the corresponding segments.The patient underwent thoracic spinal canal decompression surgery, resulting in significant improvement in the symptoms of both lower limbs postoperatively. Conclusion: This case suggests that in patients with melorheostosis presenting with neurological symptoms, potential spinal involvement should be considered. Comprehensive spinal examinations and timely diagnosis and treatment are essential for better prognosis. Melorheostosis Spine Thoracic spinal canal Lower limb paraplegia Figures Figure 1 Background Melorheostosis is a rare bone sclerosing disease of unknown etiology that commonly affects the long bones of one limb. Statistics indicate its incidence is approximately 1 in 1,000,000.X-rays typically reveal bone overgrowth flowing downward along the side of the shaft, resembling melted wax. [1]However, melorheostosis involving the spine is exceedingly rare in clinical practice. It often leads to poor prognosis due to delayed diagnosis caused by neurological impairment.Recently, we reported a case of melorheostosis involving multiple continuous thoracic vertebrae segments that caused paraplegia of the lower limbs. Case presentation A 30-year-old male patient developed numbness and weakness in both lower limbs one year ago without any apparent cause.Physical examination revealed decreased sensation and numbness below the level of the anterior superior iliac spine, with flexion and extension muscle strength in both lower limbs rated at grade 4.Full-length X-ray of the lower limbs indicated multiple areas of bone sclerosis.The patient was evaluated at a local hospital, where melorheostosis of the lower limbs was considered, and conservative drug treatment was initiated. However, neurological symptoms continued to worsen, progressing to paraplegia.Upon admission to our hospital, the flexion and extension muscle strength of the lower limbs had further declined to grade 3.A detailed spinal computed tomography (CT) scan revealed multiple signal changes in the thoracic vertebral bodies and attachments, sternum, and multiple right ribs Thoracic spinal magnetic resonance imaging (MRI) showed spinal canal stenosis at the T6-T8 vertebral levels with significant spinal cord deformation.Following multidisciplinary discussion, the diagnosis of melorheostosis involving contiguous thoracic segments with significant spinal canal stenosis and spinal cord compression was confirmed. The patient underwent posterior spinal canal decompression and fixation under general anesthesia.Intraoperative pathological diagnosis revealed necrotic bone and benign osteogenic proliferative tissue at the T6-T8 levels, consistent with melorheostosis.Postoperative thoracic X-ray and CT showed stable fixation from T4 to T10, and MRI revealed significant reduction in T6-T8 spinal canal stenosis and relief of spinal cord compression.Upon discharge, the patient's flexion and extension muscle strength in both lower limbs had improved to grade 4. At the 3-month postoperative follow-up, the patient showed no significant numbness in the lower limbs, muscle strength in both lower limbs had fully recovered to grade 5, and no specific discomfort was reported.Full-length spinal CT and MRI indicated no recurrence of the waxy sclerosis at the operated segments, and no significant spinal cord compression was observed at the corresponding levels. Discussion Melorheostosis is an extremely rare sclerotic bone disease that can affect any bone in the skeletal system, with the long bones of the lower limbs being the most commonly involved. It can occur at any age.Bone involvement can be multifocal or solitary, but in most cases, it is confined to one limb. Occasionally, bilateral involvement may occur. [2]Axial skeletal involvement may present with pain or symptoms related to nerve compression, such as spinal canal stenosis caused by vertebral masses or compression of adjacent tissues leading to neurological symptoms and related clinical manifestations. [3]Early onset and multiple limb involvement may indicate a poorer prognosis with complications.However, due to its insidious clinical presentation, the disease is often not diagnosed until early or late adulthood. The etiology and pathogenesis of the disease remain poorly understood.Studies have shown that specific gene mutations exist in some cases of melorheostosis. For instance, mutations in the MAP2K1 gene, which encodes the MEK1 protein kinase, a component of the RAS/MAPK signaling cascade, have been identified in certain patients.MAP2K1 mutations can disrupt the BMP2-mediated mineralization process of osteoblasts, leading to the formation of large amounts of unmineralized bone, and are associated with abnormal MEK1 protein activity in osteocytes.This abnormal activity may lead to dysregulated cell proliferation and bone formation in the patient's skeleton. [4, 5]Additionally, studies have found abnormal expression levels of vascular endothelial growth factor (VEGF) in these patients, which may contribute to pathological bone formation. [6] The diagnosis of this disease can be based on clinical presentation, X-rays, and pathology, with X-rays showing characteristic findings.This disease is one of the few named after its X-ray appearance, and the diagnosis is based on its typical radiographic features without requiring specific pathological findings.Five radiographic patterns have been described to date. The typical imaging appearance is unilateral limb bone sclerosis, with the sclerotic bone resembling wax dripping downward, often sparing the joints.Atypical cases include bone striation-like, myositis ossificans-like, osteoma-like, or mixed patterns. [4, 7]CT imaging is similar to X-rays, showing cortical proliferative high-density bone areas, with no evidence of osteolytic lesions. [8]Although MRI is not the first-choice imaging modality for diagnosing melorheostosis, it can detect spinal cord involvement or endosteal damage in some cases.Previous imaging studies on melorheostosis patients have found that CT accurately diagnoses bone and joint involvement, whereas MRI effectively identifies significant soft tissue abnormalities. [9] Given the rarity and complexity of this disease, there are no scientifically established treatment guidelines at present.Therefore, treatment must be individualized.Decisions regarding treatment should consider the severity of symptoms and the viability of available interventions.Given the benign nature of melorheostosis, along with the extent, size, presence of symptoms, and the feasibility of excision and reconstruction for soft tissue lesions, non-surgical measures such as advanced imaging, pharmacotherapy, physical therapy, and psychological assessment should typically be included alongside potential surgical options.In many cases, non-surgical treatment is sufficient to alleviate symptoms and restore limb function. [10, 1]When making surgical decisions, the likelihood of recurrence and the extent of adjacent soft tissue involvement are important considerations. [11]In this case, follow-up after thoracic spinal decompression surgery revealed no recurrence or worsening of spinal sclerosis.Additionally, in some cases, researchers have experimented with targeted therapies, such as VEGF inhibitors, to slow the progression of bone lesions. [12] Although melorheostosis primarily affects a single limb, spinal involvement in this case highlights its potential broader impacts.Relevant literature indicates that such cases are extremely rare in clinical practice and often result in missed diagnoses due to failure to associate melorheostosis with spinal involvement, leading to missed optimal treatment windows.This case presented with significant neurological symptoms, which were alleviated through surgery to relieve spinal canal stenosis and spinal cord compression. Postoperatively, the patient showed marked neurological recovery, with no recurrence or progression observed during follow-up. Conclusion This case report describes a patient diagnosed with melorheostosis involving multiple contiguous thoracic vertebrae segments, leading to paraplegia of both lower limbs due to numbness and weakness.Clinically, such cases are very rare and frequently result in missed diagnoses and delayed interventions due to diagnostic difficulties.The case emphasizes the importance of recognizing potential spinal involvement in melorheostosis patients with neurological symptoms, underscoring the need for comprehensive spinal assessment and prompt management. Abbreviations CT: computed tomography. MRI: magnetic resonance imaging.VEGF:Vascular endothelial growth factor. Declarations Ethics approval and consent to participate This study was approved by the Ethics Committee of Xiangya Hospital, Central South University. Written informed consent was acquired from each of the patient to authorize treatment, imageology findings, and photographic documentation. The whole research process follows the Declaration of Helsinki. Consent for publication The patients consented to the publication of their pictures as well as their anonymous and clustered data. Availability of data and materials The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request. Competing interests The authors declare that they have no competing interests. Funding This work was supported by the Natural Science Foundation of Hunan Province, China [grant numbers: 2020JJ4908]. Acknowledgements We are very grateful for all the subjects who participated in the study. References Gagliardi GG, Mahan KT. Melorheostosis: a literature review and case report with surgical considerations. J Foot Ankle Surg. 2010;49(1):80-5. doi:10.1053/j.jfas.2009.08.004. Rozencwaig R, Wilson MR, McFarland GB, Jr. Melorheostosis. Am J Orthop (Belle Mead NJ). 1997;26(2):83-9. Zeiller SC, Vaccaro AR, Wimberley DW, Albert TJ, Harrop JS, Hilibrand AS. Severe myelopathy resulting from melorheostosis of the cervicothoracic spine. A case report. J Bone Joint Surg Am. 2005;87(12):2759-62. doi:10.2106/jbjs.D.02653. Hoang VT, Van HAT, Chansomphou V, Trinh CT. The dripping candle wax sign of melorheostosis. SAGE Open Med Case Rep. 2020;8:2050313x20940564. doi:10.1177/2050313x20940564. Kang H, Jha S, Deng Z, Fratzl-Zelman N, Cabral WA, Ivovic A et al. Somatic activating mutations in MAP2K1 cause melorheostosis. Nat Commun. 2018;9(1):1390. doi:10.1038/s41467-018-03720-z. Allbritton-King JD, Maity J, Patel A, Colbert RA, Navid F, Bhattacharyya T. VEGF Secretion Drives Bone Formation in Classical MAP2K1+ Melorheostosis. J Bone Miner Res. 2023;38(12):1834-45. doi:10.1002/jbmr.4915. Kotwal A, Clarke BL. Melorheostosis: a Rare Sclerosing Bone Dysplasia. Curr Osteoporos Rep. 2017;15(4):335-42. doi:10.1007/s11914-017-0375-y. Manning P, Nguyen TB, Smitaman E. Melorheostosis with an associated para-articular enhancing soft tissue mass. Clin Imaging. 2019;56:9-12. doi:10.1016/j.clinimag.2019.02.001. Suresh S, Muthukumar T, Saifuddin A. Classical and unusual imaging appearances of melorheostosis. Clin Radiol. 2010;65(8):593-600. doi:10.1016/j.crad.2010.02.004. Debeer P, Pykels E, Lammens J, Devriendt K, Fryns JP. Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family. Am J Med Genet A. 2003;119a(2):188-93. doi:10.1002/ajmg.a.20072. John B, Sharma A, Pandey RA. Managing Recurrence in Intraarticular Melorheostosis Involving the Knee Joint: A Case Report. J Orthop Case Rep. 2017;7(5):29-33. doi:10.13107/jocr.2250-0685.884. Wordsworth P, Chan M. Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis. Calcif Tissue Int. 2019;104(5):530-43. doi:10.1007/s00223-019-00543-y. Additional Declarations No competing interests reported. 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Tang","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAABD0lEQVRIiWNgGAWjYBAC+wMg0gCImYH4g4GEHD8z8+EH+LSwMSBpYZxRYWEs2c6WZkBYCxQw85ypSNxwnkdBAq8W9rOHX90ouGO34Tjv4Re8bRLGxod5gLbW2ETj1MKTl2adY/AseWYzX5qFZJuEnNlh3gMPGI6l5TbgdFiOmXGOweFkfmYeMwNDoC1mh/kSDBgbDuPWwv8GooUNpCWxTSJxczOPgQReLRI5xo+BWuyAthg/OHBGInEDM0Etb8yYgVoSJJt5zBgbKiSMJQ4DAzkBn1/4c4w/5/w5bG9w/ozx5z8GdXL8/YcPP/hQY4NTC9giIJHYAGVAQAJu5SDA/AFI2MMYo2AUjIJRMAowAAAFSFW9C7kPTwAAAABJRU5ErkJggg==","orcid":"","institution":"Central South University","correspondingAuthor":true,"prefix":"","firstName":"Mingxing","middleName":"","lastName":"Tang","suffix":""}],"badges":[],"createdAt":"2025-01-07 03:08:17","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-5777361/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-5777361/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":73783520,"identity":"2736eeef-4a18-4b86-a40b-c63625706b5d","added_by":"auto","created_at":"2025-01-14 15:51:11","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":806174,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eA 30-year-old male patient with one-year history of numbness and weakness in both lower limbs.(a) \u003c/strong\u003ePreoperative X-ray of the lower limbs showing melorheostotic changes (indicated by red arrows).\u003cstrong\u003e(b,c,d)\u003c/strong\u003e Preoperative thoracic CT revealing multiple lesions in the vertebral bodies, attachments, right ribs, and sternum, with marked stenosis of the T6-T8 spinal canal.\u003cstrong\u003e(e,f,g)\u003c/strong\u003e Preoperative thoracic MRI displaying multiple signal changes in the thoracic vertebrae and ribs, with severe stenosis at the T6-T8 spinal canal.\u003cstrong\u003e(h) \u003c/strong\u003eX-rays taken 5 days postoperatively showing well-positioned internal fixation from T4 to T10.\u003cstrong\u003e(i,j,k) \u003c/strong\u003eThoracic CT at 3 months postoperative demonstrating well-positioned internal fixation and no significant recurrence of melorheostotic lesions at the surgical segments.\u003cstrong\u003e(l,m,n) \u003c/strong\u003eThoracic MRI at 3 months postoperative showing good spinal cord continuity and significant reduction in T4-T10 spinal canal stenosis.\u003c/p\u003e","description":"","filename":"1.png","url":"https://assets-eu.researchsquare.com/files/rs-5777361/v1/d852778bfd61b64e678d56e0.png"},{"id":76095172,"identity":"8d956f19-7667-4d72-bb90-09779caf542a","added_by":"auto","created_at":"2025-02-12 09:09:07","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":1301040,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-5777361/v1/ef182c43-c979-4ce3-89ca-32d814d854ff.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"\u003cp\u003eMelorheostosis affecting contiguous multi-segment thoracic vertebrae resulting in bilateral lower limb paralysis: A case report\u003c/p\u003e","fulltext":[{"header":"Background","content":"\u003cp\u003eMelorheostosis is a rare bone sclerosing disease of unknown etiology that commonly affects the long bones of one limb. Statistics indicate its incidence is approximately 1 in 1,000,000.X-rays typically reveal bone overgrowth flowing downward along the side of the shaft, resembling melted wax. [1]However, melorheostosis involving the spine is exceedingly rare in clinical practice. It often leads to poor prognosis due to delayed diagnosis caused by neurological impairment.Recently, we reported a case of melorheostosis involving multiple continuous thoracic vertebrae segments that caused paraplegia of the lower limbs.\u003c/p\u003e"},{"header":"Case presentation","content":"\u003cp\u003eA 30-year-old male patient developed numbness and weakness in both lower limbs one year ago without any apparent cause.Physical examination revealed decreased sensation and numbness below the level of the anterior superior iliac spine, with flexion and extension muscle strength in both lower limbs rated at grade 4.Full-length X-ray of the lower limbs indicated multiple areas of bone sclerosis.The patient was evaluated at a local hospital, where melorheostosis of the lower limbs was considered, and conservative drug treatment was initiated. However, neurological symptoms continued to worsen, progressing to paraplegia.Upon admission to our hospital, the flexion and extension muscle strength of the lower limbs had further declined to grade 3.A detailed spinal computed tomography (CT) scan revealed multiple signal changes in the thoracic vertebral bodies and attachments, sternum, and multiple right ribs Thoracic spinal magnetic resonance imaging (MRI) showed spinal canal stenosis at the T6-T8 vertebral levels with significant spinal cord deformation.Following multidisciplinary discussion, the diagnosis of melorheostosis involving contiguous thoracic segments with significant spinal canal stenosis and spinal cord compression was confirmed. The patient underwent posterior spinal canal decompression and fixation under general anesthesia.Intraoperative pathological diagnosis revealed necrotic bone and benign osteogenic proliferative tissue at the T6-T8 levels, consistent with melorheostosis.Postoperative thoracic X-ray and CT showed stable fixation from T4 to T10, and MRI revealed significant reduction in T6-T8 spinal canal stenosis and relief of spinal cord compression.Upon discharge, the patient's flexion and extension muscle strength in both lower limbs had improved to grade 4.\u003c/p\u003e \u003cp\u003eAt the 3-month postoperative follow-up, the patient showed no significant numbness in the lower limbs, muscle strength in both lower limbs had fully recovered to grade 5, and no specific discomfort was reported.Full-length spinal CT and MRI indicated no recurrence of the waxy sclerosis at the operated segments, and no significant spinal cord compression was observed at the corresponding levels.\u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003eMelorheostosis is an extremely rare sclerotic bone disease that can affect any bone in the skeletal system, with the long bones of the lower limbs being the most commonly involved. It can occur at any age.Bone involvement can be multifocal or solitary, but in most cases, it is confined to one limb. Occasionally, bilateral involvement may occur. [2]Axial skeletal involvement may present with pain or symptoms related to nerve compression, such as spinal canal stenosis caused by vertebral masses or compression of adjacent tissues leading to neurological symptoms and related clinical manifestations. [3]Early onset and multiple limb involvement may indicate a poorer prognosis with complications.However, due to its insidious clinical presentation, the disease is often not diagnosed until early or late adulthood.\u003c/p\u003e \u003cp\u003eThe etiology and pathogenesis of the disease remain poorly understood.Studies have shown that specific gene mutations exist in some cases of melorheostosis. For instance, mutations in the MAP2K1 gene, which encodes the MEK1 protein kinase, a component of the RAS/MAPK signaling cascade, have been identified in certain patients.MAP2K1 mutations can disrupt the BMP2-mediated mineralization process of osteoblasts, leading to the formation of large amounts of unmineralized bone, and are associated with abnormal MEK1 protein activity in osteocytes.This abnormal activity may lead to dysregulated cell proliferation and bone formation in the patient's skeleton. [4, 5]Additionally, studies have found abnormal expression levels of vascular endothelial growth factor (VEGF) in these patients, which may contribute to pathological bone formation. [6]\u003c/p\u003e \u003cp\u003eThe diagnosis of this disease can be based on clinical presentation, X-rays, and pathology, with X-rays showing characteristic findings.This disease is one of the few named after its X-ray appearance, and the diagnosis is based on its typical radiographic features without requiring specific pathological findings.Five radiographic patterns have been described to date. The typical imaging appearance is unilateral limb bone sclerosis, with the sclerotic bone resembling wax dripping downward, often sparing the joints.Atypical cases include bone striation-like, myositis ossificans-like, osteoma-like, or mixed patterns. [4, 7]CT imaging is similar to X-rays, showing cortical proliferative high-density bone areas, with no evidence of osteolytic lesions. [8]Although MRI is not the first-choice imaging modality for diagnosing melorheostosis, it can detect spinal cord involvement or endosteal damage in some cases.Previous imaging studies on melorheostosis patients have found that CT accurately diagnoses bone and joint involvement, whereas MRI effectively identifies significant soft tissue abnormalities. [9]\u003c/p\u003e \u003cp\u003eGiven the rarity and complexity of this disease, there are no scientifically established treatment guidelines at present.Therefore, treatment must be individualized.Decisions regarding treatment should consider the severity of symptoms and the viability of available interventions.Given the benign nature of melorheostosis, along with the extent, size, presence of symptoms, and the feasibility of excision and reconstruction for soft tissue lesions, non-surgical measures such as advanced imaging, pharmacotherapy, physical therapy, and psychological assessment should typically be included alongside potential surgical options.In many cases, non-surgical treatment is sufficient to alleviate symptoms and restore limb function. [10, 1]When making surgical decisions, the likelihood of recurrence and the extent of adjacent soft tissue involvement are important considerations. [11]In this case, follow-up after thoracic spinal decompression surgery revealed no recurrence or worsening of spinal sclerosis.Additionally, in some cases, researchers have experimented with targeted therapies, such as VEGF inhibitors, to slow the progression of bone lesions. [12]\u003c/p\u003e \u003cp\u003eAlthough melorheostosis primarily affects a single limb, spinal involvement in this case highlights its potential broader impacts.Relevant literature indicates that such cases are extremely rare in clinical practice and often result in missed diagnoses due to failure to associate melorheostosis with spinal involvement, leading to missed optimal treatment windows.This case presented with significant neurological symptoms, which were alleviated through surgery to relieve spinal canal stenosis and spinal cord compression. Postoperatively, the patient showed marked neurological recovery, with no recurrence or progression observed during follow-up.\u003c/p\u003e"},{"header":"Conclusion","content":"\u003cp\u003eThis case report describes a patient diagnosed with melorheostosis involving multiple contiguous thoracic vertebrae segments, leading to paraplegia of both lower limbs due to numbness and weakness.Clinically, such cases are very rare and frequently result in missed diagnoses and delayed interventions due to diagnostic difficulties.The case emphasizes the importance of recognizing potential spinal involvement in melorheostosis patients with neurological symptoms, underscoring the need for comprehensive spinal assessment and prompt management.\u003c/p\u003e"},{"header":"Abbreviations","content":"\u003cp\u003eCT: computed tomography. MRI: magnetic resonance imaging.VEGF:Vascular endothelial growth factor.\u0026nbsp;\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eEthics approval and consent to participate\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis study was approved by the Ethics Committee of Xiangya Hospital, Central South University. Written informed consent was acquired from each of the patient to authorize treatment, imageology findings, and photographic documentation. The whole research process follows the Declaration of Helsinki.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent for publication\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe patients consented to the publication of their pictures as well as their anonymous and clustered data.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAvailability of data and materials\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting interests\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare that they have no competing interests.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis work was supported by the Natural Science Foundation of Hunan Province, China [grant numbers: 2020JJ4908].\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAcknowledgements\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eWe are very grateful for all the subjects who participated in the study.\u003c/p\u003e"},{"header":" References","content":"\u003col\u003e\n\u003cli\u003eGagliardi GG, Mahan KT. Melorheostosis: a literature review and case report with surgical considerations. J Foot Ankle Surg. 2010;49(1):80-5. doi:10.1053/j.jfas.2009.08.004.\u003c/li\u003e\n\u003cli\u003eRozencwaig R, Wilson MR, McFarland GB, Jr. Melorheostosis. Am J Orthop (Belle Mead NJ). 1997;26(2):83-9. \u003c/li\u003e\n\u003cli\u003eZeiller SC, Vaccaro AR, Wimberley DW, Albert TJ, Harrop JS, Hilibrand AS. Severe myelopathy resulting from melorheostosis of the cervicothoracic spine. A case report. J Bone Joint Surg Am. 2005;87(12):2759-62. doi:10.2106/jbjs.D.02653.\u003c/li\u003e\n\u003cli\u003eHoang VT, Van HAT, Chansomphou V, Trinh CT. The dripping candle wax sign of melorheostosis. SAGE Open Med Case Rep. 2020;8:2050313x20940564. doi:10.1177/2050313x20940564.\u003c/li\u003e\n\u003cli\u003eKang H, Jha S, Deng Z, Fratzl-Zelman N, Cabral WA, Ivovic A et al. Somatic activating mutations in MAP2K1 cause melorheostosis. Nat Commun. 2018;9(1):1390. doi:10.1038/s41467-018-03720-z.\u003c/li\u003e\n\u003cli\u003eAllbritton-King JD, Maity J, Patel A, Colbert RA, Navid F, Bhattacharyya T. VEGF Secretion Drives Bone Formation in Classical MAP2K1+ Melorheostosis. J Bone Miner Res. 2023;38(12):1834-45. doi:10.1002/jbmr.4915.\u003c/li\u003e\n\u003cli\u003eKotwal A, Clarke BL. Melorheostosis: a Rare Sclerosing Bone Dysplasia. Curr Osteoporos Rep. 2017;15(4):335-42. doi:10.1007/s11914-017-0375-y.\u003c/li\u003e\n\u003cli\u003eManning P, Nguyen TB, Smitaman E. Melorheostosis with an associated para-articular enhancing soft tissue mass. Clin Imaging. 2019;56:9-12. doi:10.1016/j.clinimag.2019.02.001.\u003c/li\u003e\n\u003cli\u003eSuresh S, Muthukumar T, Saifuddin A. Classical and unusual imaging appearances of melorheostosis. Clin Radiol. 2010;65(8):593-600. doi:10.1016/j.crad.2010.02.004.\u003c/li\u003e\n\u003cli\u003eDebeer P, Pykels E, Lammens J, Devriendt K, Fryns JP. Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family. Am J Med Genet A. 2003;119a(2):188-93. doi:10.1002/ajmg.a.20072.\u003c/li\u003e\n\u003cli\u003eJohn B, Sharma A, Pandey RA. Managing Recurrence in Intraarticular Melorheostosis Involving the Knee Joint: A Case Report. J Orthop Case Rep. 2017;7(5):29-33. doi:10.13107/jocr.2250-0685.884.\u003c/li\u003e\n\u003cli\u003eWordsworth P, Chan M. Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis. Calcif Tissue Int. 2019;104(5):530-43. doi:10.1007/s00223-019-00543-y.\u003c/li\u003e\n\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":true,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"Melorheostosis, Spine, Thoracic spinal canal, Lower limb paraplegia","lastPublishedDoi":"10.21203/rs.3.rs-5777361/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-5777361/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e\u003cstrong\u003eBackground: \u003c/strong\u003eMelorheostosis is a non-hereditary, benign, sclerotic bone dysplasia that typically affects a single limb, involving both bones and adjacent soft tissues. It is rare in both clinical and radiological presentations.As the disease rarely involves the spine and exhibits inconspicuous early symptoms, it is frequently overlooked, leading to delayed diagnosis and missed treatment windows. Recently, we successfully diagnosed and managed a patient.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCase presentation: \u003c/strong\u003eA 30-year-old male presented with a one-year history of progressive numbness and weakness in both lower limbs without obvious cause. Following a full-length X-ray of the lower limbs, a diagnosis of melorheostosis was considered, and conservative drug therapy was initiated. However, his symptoms worsened, progressing to paraplegia.At our hospital, further spine computed tomography (CT) and magnetic resonance imaging (MRI) revealed multiple signal changes in the thoracic vertebrae, spinal canal stenosis at the T6-T8 levels, and spinal cord degeneration at the corresponding segments.The patient underwent thoracic spinal canal decompression surgery, resulting in significant improvement in the symptoms of both lower limbs postoperatively.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConclusion: \u003c/strong\u003eThis case suggests that in patients with melorheostosis presenting with neurological symptoms, potential spinal involvement should be considered. Comprehensive spinal examinations and timely diagnosis and treatment are essential for better prognosis.\u003c/p\u003e","manuscriptTitle":"Melorheostosis affecting contiguous multi-segment thoracic vertebrae resulting in bilateral lower limb paralysis: A case report","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-01-14 15:35:06","doi":"10.21203/rs.3.rs-5777361/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"ec3ae995-1140-4a64-ae8a-a0ae6e145b2c","owner":[],"postedDate":"January 14th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[],"tags":[],"updatedAt":"2025-02-12T09:08:41+00:00","versionOfRecord":[],"versionCreatedAt":"2025-01-14 15:35:06","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-5777361","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-5777361","identity":"rs-5777361","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}