Mukopolisakkaridozis: Maroteaux-Lamy sendromu

Mukopolisakkaridozis sendromları: Maroteaux-Lamy sendromu (MSP VI, Toulouse Leutrec sendromu)

Kalıtsal metabolik hastalık

Yoğun mukopolisakkaridüri

Gelişme geriliği

Tüm kemiklerde osteopetrozis ve kırıklar

Kranyumda hiperostoz

Makrosefali (hidrosefalus)

Frontal ve oksipital kemikler kabarık

Oksipital kemikte defektler

Kranyum suturaları açık

6 yaşlarında kaş/saç yoğunlaşması

Yüz elemanları kaba

Hipertelorizm

Burun yayvan-delikleri geniş

Paranazal sinüslerde hipoplazi/agenezis

İnfeksiyonlar (kronik otitis media, üst solunım yolları)

Görme sorunları

Dudaklar kalın

Mandibula angulus hipoplazisi

Mandibula kondili hipoplazisi

Çukur damak

Prognatizm

Dişlerde gelişme aksamaları

Dişlerde sürme aksamaları

Gömük dişler (kimisi süpernümerer)

Hipodonti

Molar dişler çevresinde litik alanlar

Maloklüzyon

Periodontal patolojiler

Makroglossi

Klavikulanın akromion çıkıntısında hipoplazi

Kifoz

İnguinal herni

Hepatosplenomegali

Kalp kapak anomalileri

El-ayak parmaklarının eksikliği

Parmaklarda parestezi

İşitme sorunları

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Azevedo AC, Schwartz IV, Kalakun L, et al. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clinical Genetics, 66(3):208-213, 2004
Froissart R, Da Silva IM, Maire I. Mucopolysaccharidosis type II: an update on mutation spectrum. Acta Paediatrica, Suppl.96:71-77, 2007
Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics. Annual Review of Genomics and Human Genetics, 9:359-386, 2008
Garrido E, Cormand B, Hopwood JJ, et al. Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. Molecular Genetics & Metabolism, 94(3):305-312, 2008
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Sampaio I, Marques JG. Periodic fever with aphthous stomatitis, pharyngitis and adenitis: report of 21 cases. Acta Médica Portuguesa, 24(1):37-42, 2011
D’Aco K, Underhill L, Rangachari L, et al. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. European Journal of Pediatrics, 171(6): 911-919, 2012
Kayserili H, Kantaputra PN. Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient. American Journal of Medical Genetics, 158A:1798–1800, 2012
Burton BK, Giugliani R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. European Journal of Pediatrics, 171(4): 631-639, 2012
Giugliani R, Villarreal MLS, Valdez CAA, et al. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. Genetics & Molecular Biology, 37(2): 315-329, 2014
Tylki-Szymańska A. Mucopolysaccharidosis type II, Hunter's syndrome. Pediatric Endocrinology Reviews, 12 Suppl 1:107-113, 2014
Bodamer OA, Giugliani R, Wood T. The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. Molecular Genetics & Metabolism, 113(1-2):34-41, 2014
Vairo F, Federhen A, Baldo G, et al. Diagnostic and treatment strategies in mucopolysaccharidosis VI. The Application of Clinical Genetics, 8: 245–255, 2015
Fedele AO. Sanfilippo syndrome: causes, consequences, and treatments. The Application of Clinical Genetics, 8: 269-281, 2015
Hendriksz CJ, Berger KI, Giugliani R, et al. International Guidelines for the Management and Treatment of Morquio A Syndrome. American Journal of Medical Genetics A, 167(1): 11-25, 2015
Ahmed A, Rudser K, Kunin-Batson A, et al. Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, reliability, and validity. JIMD Reports, 26: 61-68, 2016

Ana Sayfa

Feder HM Jr. Periodic fever, aphthous stomatitis, pharyngitis, adenitis: a clinical review of a new syndrome. Current Opinion in Pediatrics, 12(3):253-256, 2000