Multiple malformations due to dysplastic changes in connective tissue in children
DOI:
https://doi.org/10.69863/dim.2024.e275Keywords:
Connective Tissue Dysplasia, pediatric, fibrous cortical defects, joint hypermobility syndrome, osteochondropathy, cystic changes, comprehensive examinationAbstract
BACKGROUND: Connective Tissue Dysplasia (CTD) in pediatric populations represents a heterogeneous group of heritable disorders characterized by structural and functional anomalies in connective tissues, primarily involving abnormalities in collagen, elastin, and other essential extracellular matrix components. These anomalies manifest through a spectrum of clinical phenotypes affecting multiple organ systems. This study aimed to investigate lesser-known systemic lesions in children with dysplastic changes in connective tissue to enable timely diagnosis and comprehensive treatment.
CASE PRESENTATION: Clinical Case 1: A 15-year-old boy presented with recurrent bronchitis, pneumonia with obstructive syndrome, and asthma attacks. Allergological examination revealed significant increases in total Immunoglobulin E (IgE). Computed Tomography (CT) scans showed fibrous cortical defects and severe osteoporosis in various bones. The clinical diagnosis included undifferentiated CTD syndrome, joint hypermobility syndrome, and multiple fibrous cortical defects, among other conditions. Clinical Case 2: A 15-year-old girl with bilateral flat feet, increased thoracic kyphosis, and leftward spinal axis deviation was diagnosed with joint hypermobility syndrome. An incidental finding of a large cyst in the lower pole of the spleen was surgically treated.
CONCLUSION: Dysplastic changes in connective tissue present through various clinical conditions, highlighting the need for a comprehensive examination. The combination of undifferentiated CTD with fibrous cortical defects, osteochondropathy, cystic changes in internal organs, and other developmental anomalies underscores the need for further in-depth research
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Vanakker OM, Hemelsoet D, De Paepe A. Hereditary connective tissue diseases in young adult stroke: a comprehensive synthesis. Stroke Res Treat 2011;2011(1):712903.doi: 10.4061/2011/712903. PMID: 21331163
Jin L, Liu Y. Clinical manifestations, pathogenesis, diagnosis and treatment of peripheral neuropathies in connective tissue diseases: More diverse and frequent in different subtypes than expected. Diagnostics (Basel) 2021;11(11):1956.doi: 10.3390/diagnostics11111956. PMID: 34829303
Sakai LY, Keene DR, Renard M, et al. FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. Gene 2016;591(1):279-291.doi: 10.1016/j.gene.2016.07.033. PMID: 27437668
Grimaldi A, De Gennaro L, Chiara Vermi A, et al. Cardiac valve involvement in systemic diseases: a review. Clin Cardiol 2013;36(3):117-124.doi: 10.1002/clc.22099. PMID: 23408535
Kim TH, Choi JW, Jeong WS. Current concepts of vascular anomalies. Arch Craniofac Surg 2023;24(4):145-158.doi: 10.7181/acfs.2023.00332. PMID: 37654234
Protsailo M, Dzhyvak V, Krycky I, et al. The prevalence of undifferentiated connective tissue dysplasia in senior students. Reabilitacijos mokslai: slauga, kineziterapija, ergoterapija 2023;2(29):69-81.doi: 10.33607/rmske.v2i29.1426. PMID:
Tocchioni F, Ghionzoli M, Messineo A, et al. Pectus excavatum and heritable disorders of the connective tissue. Pediatr Rep 2013;5(3):e15.doi: 10.4081/pr.2013.e15. PMID: 24198927
Meester JAN, Verstraeten A, Schepers D, et al. Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Ann Cardiothorac Surg 2017;6(6):582-594.doi: 10.21037/acs.2017.11.03. PMID: 29270370
Fullen BM, Wittink H, De Groef A, et al. Musculoskeletal pain: Current and future directions of physical therapy practice. Arch Rehabil Res Clin Transl 2023;5(1):100258.doi: 10.1016/j.arrct.2023.100258. PMID: 36968175
El-Tallawy SN, Nalamasu R, Salem GI, et al. Management of musculoskeletal pain: An update with emphasis on chronic musculoskeletal pain. Pain Ther 2021;10(1):181-209.doi: 10.1007/s40122-021-00235-2. PMID: 33575952
Shchukin D, Demchenko V, Arkatov A, et al. "Extreme nephroptosis": A kidney in the inguinal hernia. Case Rep Med 2023;2023(1):1439919.doi: 10.1155/2023/1439919. PMID: 37601700
Martinucci I, de Bortoli N, Giacchino M, et al. Esophageal motility abnormalities in gastroesophageal reflux disease. World J Gastrointest Pharmacol Ther 2014;5(2):86-96.doi: 10.4292/wjgpt.v5.i2.86. PMID: 24868489
Asif MI, Kalra N, Sharma N, et al. Connective tissue disorders and eye: A review and recent updates. Indian J Ophthalmol 2023;71(6):2385-2398.doi: 10.4103/ijo.IJO_286_22. PMID: 37322648
Asanad S, Bayomi M, Brown D, et al. Ehlers-Danlos syndromes and their manifestations in the visual system. Front Med (Lausanne) 2022;9(1):996458.doi: 10.3389/fmed.2022.996458. PMID: 36237549
Marelli S, Micaglio E, Taurino J, et al. Marfan syndrome: Enhanced diagnostic tools and follow-up management strategies. Diagnostics (Basel) 2023;13(13):2284.doi: 10.3390/diagnostics13132284. PMID: 37443678
Jee AS, Sheehy R, Hopkins P, et al. Diagnosis and management of connective tissue disease-associated interstitial lung disease in Australia and New Zealand: A position statement from the Thoracic Society of Australia and New Zealand. Respirology 2021;26(1):23-51.doi: 10.1111/resp.13977. PMID: 33233015
Pitcher A, Spata E, Emberson J, et al. Angiotensin receptor blockers and beta blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials. Lancet 2022;400(10355):822-831.doi: 10.1016/S0140-6736(22)01534-3. PMID: 36049495
Doctor A, Zimmerman J, Agus M, et al. Pediatric multiple organ dysfunction syndrome: Promising therapies. Pediatr Crit Care Med 2017;18(3):S67-S82.doi: 10.1097/PCC.0000000000001053. PMID: 28248836
Protsailo MD, Fedortsiv OY, Dzhyvak VG, et al. Clinical features of connective tissue dysplasia, osgood-schlatter disease and multiple cortical disorders in a child. Wiad Lek 2023;76(8):1854-1860.doi: 10.36740/WLek202308120. PMID: 37740981
Du Q, Zhang D, Zhuang Y, et al. The molecular genetics of marfan syndrome. Int J Med Sci 2021;18(13):2752-2766.doi: 10.7150/ijms.60685. PMID: 34220303
Islam M, Chang C, Gershwin ME. Ehlers-Danlos Syndrome: Immunologic contrasts and connective tissue comparisons. J Transl Autoimmun 2021;4(1):100077.doi: 10.1016/j.jtauto.2020.100077. PMID: 33437956
Mecham RP, Gibson MA. The microfibril-associated glycoproteins (MAGPs) and the microfibrillar niche. Matrix Biol 2015;47(1):13-33.doi: 10.1016/j.matbio.2015.05.003. PMID: 25963142
Dzobo K, Dandara C. The extracellular matrix: Its composition, function, remodeling, and role in tumorigenesis. Biomimetics (Basel) 2023;8(2):146.doi: 10.3390/biomimetics8020146. PMID: 37092398
Satam H, Joshi K, Mangrolia U, et al. Next-generation sequencing technology: Current trends and advancements. Biology (Basel) 2023;12(7):997.doi: 10.3390/biology12070997. PMID: 37508427
Mathew RC, Loffler AI, Salerno M. Role of cardiac magnetic resonance imaging in valvular heart disease: Diagnosis, assessment, and management. Curr Cardiol Rep 2018;20(11):119.doi: 10.1007/s11886-018-1057-9. PMID: 30259253
Groenink M, den Hartog AW, Franken R, et al. Losartan reduces aortic dilatation rate in adults with Marfan syndrome: a randomized controlled trial. Eur Heart J 2013;34(45):3491-500.doi: 10.1093/eurheartj/eht334. PMID: 23999449
Mahalakshmi B, Maurya N, Lee SD, et al. Possible neuroprotective mechanisms of physical exercise in neurodegeneration. Int J Mol Sci 2020;21(16):5895.doi: 10.3390/ijms21165895. PMID: 32824367
Kirkbride JB, Anglin DM, Colman I, et al. The social determinants of mental health and disorder: evidence, prevention and recommendations. World Psychiatry 2024;23(1):58-90.doi: 10.1002/wps.21160. PMID: 38214615
Cosare MJ, Korkmaz AG, Valencia V, et al. Multisystem involvement in a pediatric patient with hypermobile ehlers-danlos syndrome: A case report of the diagnostic complexity and management challenges. Cureus 2024;16(6):e62083.doi: 10.7759/cureus.62083. PMID: 38989334
Ahmed Z, Zeeshan S, Mendhe D, et al. Human gene and disease associations for clinical-genomics and precision medicine research. Clin Transl Med 2020;10(1):297-318.doi: 10.1002/ctm2.28. PMID: 32508008
Lacro RV, Dietz HC, Wruck LM, et al. Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. Am Heart J 2007;154(4):624-631.doi: 10.1016/j.ahj.2007.06.024. PMID: 17892982
Almeida ILL, Rego JF, Teixeira ACG, et al. Social isolation and its impact on child and adolescent development: a systematic review. Rev Paul Pediatr 2021;40(1):e2020385.doi: 10.1590/1984-0462/2022/40/2020385. PMID: 34614137
Vadzyuk SN, Dzhyvak TV. Features of the psycho-emotional state in adolescents with different heat sensitivity. Art of Medicine 2023;27(3):20-24.doi: 10.21802/artm.2023.3.27.20. PMID:
Tadic V, Ashcroft R, Brown JB, et al. The role of social workers in interprofessional primary healthcare teams. Healthc Policy 2020;16(1):27-42.doi: 10.12927/hcpol.2020.26292. PMID: 32813638
Jasemi M, Valizadeh L, Zamanzadeh V, et al. A concept analysis of holistic care by hybrid model. Indian J Palliat Care 2017;23(1):71-80.doi: 10.4103/0973-1075.197960. PMID: 28216867
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Copyright (c) 2024 Mykhailo Protsailo, Volodymyr Dzhyvak , Ihor Krycky, Pavlo Hoshchynskyi, Andreas Budi Wijaya
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