Öz

Kifoskolyotik tip Ehlers-Danlos sendromu (EDS), tip VI, doğumdan itibaren varolan ciddi muskuler hipotoni, progresif ve ciddi kifoskolyoz, belirgin eklem hipermobilitesi ve luksasyon ve ciddi deri hiperelastikiyeti ile karakterize nadir otozomal resesif bir bağ doku hastalığıdır. Prokolajen-lizin-2-oksoglutarat 5-dioksijenaz 1(PLOD1 veya lizil hidroksilaz 1) gen mutasyonu sonucu bu hastalarda kolajen lizil hidroksilaz enzim eksikliği ile görülmektedir. Normal sağlıklı kontroller ile karşılaştırıldıklarında, idrarda artmış total lizil pridinoline/hidroksi pridinoline oranları yüksektir ve bu durum hastalık için tanı koydurucudur. Bu vakada omurga eğriliği şikayeti ile başvuran ve kisosfolyotik tip Ehlers-Danlos sendromu tanısı alan 7 yaşında kız sunuldu.

Anahtar Kelimeler: Çocuk, Ehlers-Danlos sendromu, Hipotoni, Kifoskolyoz

Referanslar

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Telif hakkı ve lisans

Nasıl atıf yapılır

1.
Canpolat M, Şahin NE, Kardaş F, Canpolat M, Gümüş H, Per H, et al. Ehler-Danlos Sendromu Tip VI: Olgu Sunumu. Turk J Pediatr Dis [Internet]. 2014 Aug. 1 [cited 2025 May 25];8(2):101-4. Available from: https://turkjpediatrdis.org/article/view/275