The aim of presenting these cases was to emphasize the characteristic and diagnostic MR findings for WWS, to distract attention of radiologists and pediatricians to this rarely seen syndrome and to emphasize the genetic counseling of families due to autosomal recessive inheri-tance of WWS.
📌 3 Maddede Bu Makale
🎯
Amaç & Hipotez:Walker-Warburg Syndrome (WWS) is a an inherited autosomal recessive congenital muscular atrophy characterized by retinal and cerebral anomalies.
📊
Temel Bulgular & Veri:In this report two cases who had his-tory of consanguineous marriage diagnosed as WWS according to findings of hypotonia, typical MR images and high creatini-ne phosphokinase levels, were presented.
💡
Sonuç & Katkı:The aim of presenting these cases was to emphasize the characteristic and diagnostic MR findings for WWS, to distract attention of radiologists and pediatricians to this rarely seen syndrome and to emphasize the genetic counseling of families due to autosomal recessive inheri-tance of WWS.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri
Özet
Walker-Warburg Syndrome (WWS) is a an inherited autosomal recessive congenital muscular atrophy characterized by retinal and cerebral anomalies. In this report two cases who had his-tory of consanguineous marriage diagnosed as WWS according to findings of hypotonia, typical MR images and high creatini-ne phosphokinase levels, were presented. The aim of presenting these cases was to emphasize the characteristic and diagnostic MR findings for WWS, to distract attention of radiologists and pediatricians to this rarely seen syndrome and to emphasize the genetic counseling of families due to autosomal recessive inheri-tance of WWS.
🔖
Bu Makaleye Atıf Yap
AKTAŞ, S., KARAKURT, T. L., AYDIN, K., ÖNAL, Z. E. (2018). Two newborn case reports diagnosed as Walker Warburg syndrome. Medeniyet Medical Journal, Cilt: 33 - Sayı: 4, 346–351. https://ajindex.com/articles/283290
Dobyns WB, Pagon RA, Armstrong D, et al. Diagnostic cri-teria for Walker-Warburg syndrome. Am J Med Genet. 1989;32:195-210.
Zaleski CG, Abdenour GE. Pediatric case of the day. Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). Radiographics 1997;17:1319-23.
Barkovich AJ. Neuroimaging manifestations and classifica-tion of congenital muscular dystrophies. Am J Neuroradiol.1998;19:1389-96
Van der Knaap MS, Smit LM, Barth PG, et al. Magnetic re-sonance imaging in classification of congenital muscu-lar dystrophies with brain abnormalities. Ann Neurol. 1997;42:50-9.
Valanne L, Pihko H, Katevuo K, et al. MRI of the brain in muscle-eye-brain (MEB) disease. Neuroradiology 1994;36:473-6.
Altınok D, Dinçer A, Yıldız YT, Tacal T. Walker-Warburg Sendromu: MRG bulguları. Tanısal ve Girişimsel Radyoloji 2000;6:233-6
Mostacciuolo ML., Miorin M, Martinello F, et al. Genetic epidemiology of congenital muscular dystrophy in a sample from the north-east Italy. Hum Genet. 1996;97:277-9.
Toda T, Yoshioka M, Nakahori Y, et al. Genetic identity of fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome. Ann Neurol. 1995;37:99-101.
Ohtsuka, Y, Kanagawa, M, Yu C,et al. Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective large expression. Sci Rep. 2015;5:8316.
Van Reeuwijk J, Janssen M, van den Elzen C, et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet. 2005;42:907-12.
Gerding H, Gullotta F, Kuchelmeister K, Busse H. Ocular findings in Walker-Warburg syndrome. Child Nerv Syst. 1993;9:418-20.
Hakim N, Soare C, Hakim J. Bilateral total retinal detachment at birth: a case report of Walker-Warburg syndrome. Int Med Case Rep J. 2018;11:1-4.
Ayvaz A, Atalar M, Koçak O, İçağasıoğlu FD. Three Cases of Walker Warburg Syndrome. J Clin Anal Med. 2014;5:338-30.