BALANCE EVALUATION IN A PEDIATRIC PATIENT WITH MARFAN SYNDROME CASE STUDY

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

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.

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.

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

Destekleyen Kurum

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

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.

Kaynakça

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