BALANCE EVALUATION IN A PEDIATRIC PATIENT WITH MARFAN SYNDROME CASE STUDY

Yıl 2025, Cilt: 6 Sayı: 3, 29 - 39, 31.12.2025

Şüheda Keleş , Bahriye Horasanlı

Öz

Aim: Marfan syndrome is an autosomal dominant connective tissue disorder characterized by multisystem involvement, particularly affecting the skeletal, cardiovascular, and ocular systems. Structural abnormalities such as scoliosis, joint hypermobility, and muscle weakness may negatively influence postural control and balance in pediatric patients. The aim of this case study is to evaluate both static and dynamic balance in a pediatric patient diagnosed with Marfan syndrome. Methods: A 10-year-old male patient diagnosed with Marfan syndrome presented with complaints of balance difficulty, particularly during walking and stair climbing. Physical examination revealed typical skeletal deformities including increased arm span-height ratio, pectus carinatum, scoliosis, and hypermobile joints. Balance assessment included static tests (Romberg, Tandem Romberg, single-leg stance) and dynamic tests (Timed Up and Go, line walking, Unterberger test), as well as the Pediatric Balance Scale. Results: Assessment results have demonstrated that balance performance is reduced, particularly in situations where visual or proprioceptive input is diminished. Findings indicate that proprioceptive deficiency, lower limb asymmetry, and trunk muscle weakness compromise postural stability. These characteristics are frequently observed in Marfan syndrome and may increase the risk of falls in paediatric patients. The current assessment supports the necessity of vestibular rehabilitation targeting proprioceptive information and balance strategies. Conclusion: Early and comprehensive balance assessment is essential for pediatric patients with Marfan syndrome to identify risks and improve functional mobility. Vestibular rehabilitation programs tailored to individual needs may enhance postural control and reduce fall risk, ultimately contributing to improved quality of life and independence in daily activities.

Anahtar Kelimeler

MARFAN SYNDROME , BALANCE , PEDIATRIC , VESTIBULAR REHABILITATION , PROPRIOCEPTION

Etik Beyan

In this article produced by me; I declare that all data, information, knowledge and documents presented herein have been obtained in accordance with scientific ethical principles, that all evaluations, analyses, findings and conclusions have been presented in accordance with scientific methods, that all sources used in this article have been cited in accordance with scientific norms, and that my thesis/project is original except where sources are cited. and I hereby declare that I accept all potential rights losses that may arise against me in the event of any contrary situation.

Destekleyen Kurum

The article was presented as an oral presentation at the 9th International Congress of Medical and Health Sciences (ISPEC) but was not supported by any institution.

MARFAN SENDROMLU ÇOCUK HASTADA DENGE DEĞERLENDİRMESİ VAKA ÇALIŞMASI

Öz

Amaç: Marfan sendromu, başta iskelet, kardiyovasküler ve oküler sistemleri etkileyen, multisistemik bulgularla seyreden otozomal dominant bir bağ dokusu hastalığıdır. Skolyoz, eklem hipermobilitesi ve kas zayıflığı gibi yapısal bozukluklar, pediatrik hastalarda postüral kontrol ve dengeyi olumsuz yönde etkileyebilir. Bu vaka çalışmasının amacı, Marfan sendromu tanısı almış bir çocuk hastada statik ve dinamik dengeyi değerlendirmektir. Yöntem: Marfan sendromu tanısı almış 10 yaşındaki erkek çocuk, özellikle yürüme ve merdiven çıkma sırasında denge kaybı şikayetleri ile başvurmuştur. Fizik muayenede artmış kol açıklığı-boy oranı, pektus karinatum, skolyoz ve hipermobil eklemler gibi tipik iskelet deformiteleri gözlemlenmiştir. Statik denge değerlendirmesinde Romberg, Tandem Romberg ve tek ayak üzerinde durma testleri; dinamik denge değerlendirmesinde ise Zamanlı Kalk Yürü Testi, çizgi üzerinde yürüme, Unterberger testi ve Pediatrik Denge Ölçeği kullanılmıştır. Bulgular: Değerlendirme sonuçları, özellikle görsel ya da propriyoseptif girdinin azaltıldığı durumlarda denge performansının azaldığını göstermiştir. Bulgular, propriyoseptif yetersizlik, alt ekstremite asimetrisi ve gövde kas zayıflığının postüral stabiliteyi bozduğunu ortaya koymuştur. Bu özellikler, Marfan sendromunda sık görülen ve çocuk hastalarda düşme riskini artırabilecek durumlardır. Mevcut değerlendirme, propriyoseptif bilgi ve denge stratejilerini hedefleyen vestibüler rehabilitasyonun gerekliliğini desteklemektedir. Sonuç: Marfan sendromlu çocuk hastalarda erken ve kapsamlı denge değerlendirmesi, risklerin belirlenmesi ve fonksiyonel hareketliliğin artırılması açısından önem taşımaktadır. Bireye özel planlanan vestibüler rehabilitasyon programları, postüral kontrolü geliştirerek düşme riskini azaltabilir ve günlük yaşamda bağımsızlık ile yaşam kalitesini artırabilir.

Anahtar Kelimeler

MARFAN SENDROMU , DENGE , PEDİATRİK , VESTİBÜLER REHABİLİTASYON , PROPRİOSEPSİYON

Etik Beyan

Tarafımdan üretilen bu makale çalışmasında; sunduğum tüm veri, enformasyon, bilgi ve belgeleri bilimsel etik kuralları çerçevesinde elde ettiğimi, tüm değerlendirme, analiz, bulgu ve sonuçları bilimsel usullere uygun olarak sunduğumu, makale çalışmasında yararlandığım kaynakların tümüne bilimsel normlara uygun biçimde atıfta bulunarak kaynak gösterdiğimi, tezimin/projemin kaynak gösterilen durumlar dışında özgün olduğunu bildirir, aksi bir durumda aleyhime doğabilecek tüm hak kayıplarını kabullendiğimi bildiririm.

Destekleyen Kurum

Makale, ISPEC 9. Uluslararası Tıp ve Sağlık Bilimleri Kongresi'nde sözlü bildiri olarak sunulmuştur ancak hiçbir kurum tarafından desteklenmemektedir.

Kaynakça

• 1. Monteleone S, Feltroni L, Arbustini E, et al. Balance in patients with Marfan syndrome. Translational Science of Rare Diseases. 2018;3(3-4):145-156.
• 2. Ammash NM, Sundt TM, Connolly HM. Marfan syndrome-diagnosis and management. Curr Probl Cardiol. 2008 Jan;33(1):7-39.
• 3. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996 Apr 24;62(4):417-26.
• 4. About marfan syndrome [Internet]. Centers For Di̇sease Control And Preventi̇on; 15 Mayıs 2024 [Erişim tarihi: 21.01.2025]. Erişim adresi: https://www.cdc.gov/heart-disease/about/marfan-syndrome.html?
• 5. Coelho SG, Almeida AG. Marfan syndrome revisited: From genetics to the clinic. Rev Port Cardiol (Engl Ed). 2020 Apr;39(4):215-226. English, Portuguese.
• 6. Connolly HM, Niaz T, Bowen JM. What Is Marfan Syndrome? JAMA. 2023 May 9;329(18):1618.
• 7. Salik I, Rawla P. Marfan syndrome. In StatPearls. StatPearls Publishing, 2023.
• 8. Wright MJ. Management of marfan syndrome and related disorder [İnternet]. UpToDate; 2025 [Erişim tarihi: 03.04.2025]. Erişim adresi: https://www.uptodate.com/contents/management-of-marfan-syndrome-and-relateddisorderssearch=marfan%20syndrome%20adult&source=search_result&selectedTitle=2%7E150&usage_type=default&display_rank=2#H2712829966
• 9. Dean JC. Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet. 2007 Jul;15(7):724-33.
• 10. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991 Jul 25;352(6333):337-9.
• 11. Lidal IB, Bathen T, Johansen H, Velvin G. A scoping review presenting a wide variety of research on paediatric and adolescent patients with Marfan syndrome. Acta Paediatr. 2020 Sep;109(9):1758-1771.
• 12. Edouard T, Picot MC, Bajanca F, Huguet H, Guitarte A, Langeois M, Chesneau B, Van Kien PK, Garrigue E, Dulac Y, Amedro P. Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study. Orphanet J Rare Dis. 2024 Apr 30;19(1):180.
• 13. Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85.
• 14. Mueller GC, Stark V, Steiner K, Weil J, von Kodolitsch Y, Mir TS. The Kid-Short Marfan Score (Kid-SMS)- an easy executable risk score for suspected paediatric patients with Marfan syndrome. Acta Paediatr. 2013 Feb;102(2): e84-9.
• 15. Dietz H. FBN1-Related Marfan Syndrome. 2001 Apr 18 [Updated 2022 Feb 17]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1335/.
• 16. Pyeritz RE, Francke U. The Second International Symposium on the Marfan Syndrome. Am J Med Genet. 1993 Aug 1;47(1):127-35.
• 17. Harshavardhana NS, Noordeen HM. Spinal deformity in marfan syndrome (MFS). In: Child AH, editör. Diagnosis and management of marfan syndrome. Springer London, 2016; s. 145-164.
• 18. Parker PM. What is marfan syndrome? İçinde: Parker JN, Parker PM, editör. Marfan syndrome- a bibliography and dictionary for physicians, patients, and genome researchers. Icon Group Internati̇onal, Inc, 2007; s. 3-4.
• 19. Galli M, Cimolin V, Vismara L, Grugni G, Camerota F, Celletti C, Albertini G, Rigoldi C, Capodaglio P. The effects of muscle hypotonia and weakness on balance: a study on Prader-Willi and Ehlers-Danlos syndrome patients. Res Dev Disabil. 2011 May-Jun;32(3):1117-21.
• 20. Voermans Nc, Timmermans J, van Alfen N, Pillen S, op den Akker J, Lammens M, Zwarts MJ, van Rooij IA, Hamel BC, van Engelen BG. Neuromuscular features in Marfan syndrome. Clin Genet. 2009 Jul;76(1):25-37.
• 21. Røgind H, Lykkegaard JJ, Bliddal H, Danneskiold-Samsøe B. Postural sway in normal subjects aged 20-70 years. Clin Physiol Funct Imaging. 2003 May;23(3):171-6.
• 22. Herdman SJ, Clendaniel RA. Vestibular rehabilitation (4th ed.). F.A. Davis Company; 2014.
• 23. Steindl R, Kunz K, Schrott-Fischer A, Scholtz AW. Effect of age and sex on maturation of sensory systems and balance control. Dev Med Child Neurol. 2006 Jun;48(6):477-82.
• 24. Franjoine MR, Gunther JS, Taylor MJ. Pediatric balance scale: a modified version of the berg balance scale for the school-age child with mild to moderate motor impairment. Pediatr Phys Ther. 2003 Summer;15(2):114-28.
• 25. Horak FB. Clinical measurement of postural control in adults. Phys Ther. 1987 Dec;67(12):1881-5.
• 26. Usta A. Serebral palsi’li çocuklarda denge değerlendirmesinde kullanılan farklı yöntemlerin karşılaştırılması [Yüksek lisans tezi]. Ankara: Hacettepe Üni̇versi̇tesi̇ Sağlık Bi̇li̇mleri̇ Ensti̇tüsü; 2011.
• 27. Rusek W, Adamczyk M, Baran J, Leszczak J, Inglot G, Baran R, Pop T. Is There a Link between Balance and Body Mass Composition in Children and Adolescents? Int J Environ Res Public Health. 2021 Oct 4;18(19):10449.
• 28. Condon C, Cremin K. Static balance norms in children. Physiother Res Int. 2014 Mar;19(1):1-7.
• 29. Largo RH, Caflisch JA, Hug F, Muggli K, Molnar AA, Molinari L, Sheehy A, Gasser ST. Neuromotor development from 5 to 18 years. Part 1: timed performance. Dev Med Child Neurol. 2001 Jul;43(7):436-43.
• 30. De Kegel A, Dhooge I, Cambier D, Baetens T, Palmans T, Van Waelvelde H. Test-retest reliability of the assessment of postural stability in typically developing children and in hearing impaired children. Gait Posture. 2011 Apr;33(4):679-85.
• 31. Muehlbauer T, Hill MW, Schedler S. Effect of arm movement and task difficulty level on balance performance in healthy children: are there sex differences? BMC Res Notes. 2022 Dec 9;15(1):362.
• 32. Alonso AC, Mochizuki L, Silva Luna NM, Ayama S, Canonica AC, Greve JM. Relation between the Sensory and Anthropometric Variables in the Quiet Standing Postural Control: Is the Inverted Pendulum Important for the Static Balance Control? Biomed Res Int. 2015; 2015:985312.
• 33. Sobhani-Eraghi A, Motalebi M, Sarreshtehdari S, Molazem-Sanandaji B, Hasanlu Z. Prevalence of joint hypermobility in children and adolescents: A systematic review and meta-analysis. J Res Med Sci. 2020 Nov 26;25:104.
• 34. Rudagi BM, Rishabh J, Arif M, Namrata C, Shahbaaz N, Gaurav B. Management of unilateral temporomandibular joint ankylosis & orthomorphic correction in a patient with Marfan syndrome: A rare case report. Int J Surg Case Rep. 2020;75:157-161.
• 35. Onan D, Demirel A, Özel AY, Berberoğlu U. Marfan sendromlu bir hastanın denge, yürüyüş ve düşme korkusu değerlendirmesi: bir vaka sunumu. Uluslararası Katılımlı 1. Yürüyüş ve Denge Kongresi̇; Eylül 2017; Ankara, Türkiye.
• 36. Fındıkoğlu G. Postürografi ile Yüksek Düşme Riski Saptanan Marfan Sendromlu Basketbol Oyuncusu A Basketball Player With Marfan Syndrome and High Risk of Fall Detected by Posturography. 2011; doi:10.4274/TFTR.44365.
• 37. Yadao S, Bansal K, Mungal SM, Gakkhar A, Mehendale AM. A Case of Marfan Syndrome With Congenital Hip Dysplasia and Spine Abnormality. Cureus. 2024 Apr 3;16(4):e57569.
• 38. Severijns P, Overbergh T, Scheys L, Moke L, Desloovere K. Reliability of the balance evaluation systems test and trunk control measurement scale in adult spinal deformity. PLoS One. 2019 Aug 26;14(8):e0221489.