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Mukopolisakkaridozis sendromları

Hurler sendromu

Gargoylism, MPS I-H, Hunter-Hurler, Hurler-Pfaundler, dysostosis multiplex

Kalıtsal

1 yaşından sonra belirir

Gelişme geriliği

Boyun kısa

Makrosefali

Kafa tabanı kemikleri kalın

Sella turcica nal biçiminde

Hidrosefalus

Toraks ve kosta malformasyonları

Ağır göz kapakları

Kornea bulanıklığı

Burun basık

Yüzde kıllanma

Nazolabial oluk belirgin

Dudaklar kalın

Ağız açık

Makroglossi

Mikrognati (kısa-yayvan altçene)

Temporomandibular eklemde kondil anomalileri

Dişlerde sürme aksamaları

Maloklüzyon

Ön bölgede diastemalar

Kök anomalileri

Dişlerde kuron aşınmaları

Dentigeröz kist izlenimi veren oluşumlar

Gingivitis

Gingival hiperplazi

Akut kardiyomyopati

Pulmoner hipertansiyon

Pnömoni atakları

Kıkırdak, kornea ve tendon bağ dokuları yapısı bozuk

Gar­goyle hücreleri (beyin, hipofiz, karaciğer, dalak, lenf düğümleri, kalp)

Hepatosplenomegali

İnguinal herniler

İdrarda bol kondroitin sülfat B ve heparin sülfat

Zeka geriliği

 

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  • Vairo F, Federhen A, Baldo G, et al. Diagnostic and treatment strategies in mucopolysaccharidosis VI. The Application of Clinical Genetics, 8: 245–255, 2015

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  • Ahmed A, Rudser K, Kunin-Batson A, et al. Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, reliability, and validity. JIMD Reports, 26: 61-68, 2016