Walker-Warburg Syndrome as a Rare Cause of Hypotonia

Yıl 2013, Özel Sayı, 11 - 15, 01.06.2013

Asuman Kıral Berrin Ergin Yılmazer Zeynep Zara Pınar İşgüven

Öz

The Walker-Warburg syndrome is an autosomal recessive disease characterized by type 2 lissencephaly, cerebellar malformations, retinal abnormalities and congenital muscular dystrophy with most children dying before the age of three.In this report, we represent a patient diagnosed as Walker-Warburg syndrome with feeding difficulty, generalized hypotonia, facial dysmorphic features, eye and brain abnormalities and also elevated creatine kinase level. The parents were first degree relatives. The diagnosis of this rare disease is important in hypotonic infants for genetic counseling of families, as it is lethal and inherited in an autosomal recessive manner

Anahtar Kelimeler

Hypotonia, Congenital, Muscular dystrophy, Walker-Warburg

Nadir Görülen Bir Hipotoni Olgusu: Walker-Warburg Sendromu

Öz

Walker-Warburg sendromu (WWS), otozomal resesif geçişli (OR) tip 2 lizensefali, serebellar anomali, retinal anomali ve konjenital musküler distrofinin birlikte görülebildiği ve olguların en geç üç yaşında kaybedildiği oldukça nadir görülen bir hastalıktır. Bu makalede aralarında 1. derece akraba evliliği olan anne ve babadan doğan, emme zayıflığı şikayetiyle hastanemize getirilen, yapılan fizik muayene ve laboratuvar tetkikleri sonucu ağır hipotoni, atipik yüz görünümü, gözlerde ve beyinde anormallikler, çok yüksek serum kreatin fosfokinaz düzeyi ile Walker-Warburg sendromu tanısı konulan bir olgu anlatılmaktadır. Bu olgunun sunulmasındaki amaç, yenidoğan döneminde hipotonik infant ayırıcı tanısında yer alan nadir görülen bu kas hastalığına dikkat çekmek ve OR geçişli, letal bir hastalık olması sebebiyle aileye verilecek genetik danışmanın önemini vurgulamaktır.

Anahtar Kelimeler

Hipotoni, Konjenital, Musküler distrofi, Walker-Warburg

Kaynakça

• Vajsar J, Schachter H. Walker-Warburg syndrome. Orphanet J Rare Dis 2006;1:29.
• Mostacciuolo ML, Miorin M, Martinello F, Angelini C, Perini P, Trevisan CP. Genetic epidemiology of congenital muscular dystrophy in a sample from the North-East Italy. Hum Genet 1996;97:277-9.
• Semerci C, Şenel S, Okumuş N, Talim B, Üner Ç, Göktaş İ, ve ark. Bir olgu nedeniyle Walker Warburg sendromu ve yeni görüşler. Gülhane Tıp Dergisi 2003;45:213-7.
• Dobyns WB, Kirkpatrick JB, Hittner HM, Roberts RM, Kretzer FL. Syndromes with lissencephaly II: Walker-Warburg and cerebrooculo-muscular syndromes and a new syndrome with type II lissencephaly. Am J Med Genet1985;22:157-95.
• Dobyns WB, Pagon RA, Amstrong D, Curry CJ, Greenberg F, Grix A, et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet1989;32:195-210.
• Heggie P, Grossniklaus HE, Roessmann U,Chou SM, Cruse RP. Cerebro-ocular dysplasia-muscular dystrophy syndrome. Report of two cases. Arch Ophthalmol 1987;105:520-4.
• Towfighi J, Sassani JW, Suzuki K, Ladda RL. Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome. Acta Neuropathol 1984;65:110-23.
• Asano Y, Minagawa K, Okuda A, Matsui T, Ando K, Kondo-Iida E, et al. A case of Walker-Warburg syndrome. Brain Dev 2000;22:454-7.
• Gasser B, Lindner V, Dreyfus M, Feidt X, Leissner P, Treisser A, et al. Prenatal diagnosis of Walker-Warburg syndrome in three sibs. Am J Med Genet 19985;76:107-10.
• Beltrán-Valero De Bernabé D, Currier S, Steinbrecher A, Celli J, Van Beusekom E, Van Der Zwaag B, et al. Mutations in the O-Mannosyltransferase Gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg Syndrome. Am J Hum Genet 2002; 71:1033-43.
• Cormand B, Pihko H, Bayes M, Valanne L, Santavuori P, Talim B, et al. Clinical and genetic distinction between Walker- Warburg syndrome and muscle-eye-brain disease. Neurology 2001;56:1059-69.
• Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell 2001;1:717-24.
• Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo- Iida E, Nomura Y, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998;394:388-92.
• van Reeuwijk J, Brunner HG, Van Bokhoven H: Glyc-O-genetics of Walker-Warburg syndrome. Clin Genet 2005;67:281-9.
• Beltrán-Valero de Bernabé D, van Bokhoven E, van Beusekom E, Van Den Akker W, Kant S, Dobyns WB, et al. A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype. J Med Genet 2003;40:845-8.
• Beltran-Valero de Bernabe D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, et al. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet 2004;41:e61.
• van Reeuwijk J, Grewal PK, Salih MA, Beltrán-Valero de Bernabé D, McLaughlan JM, Michielse CB, et al. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet 2007;121:685-90.
• Burto BK, Dillard RG, Weaver RG. Walker Warburg syndrome with cleft lip and cleft palate in two sibs. Am J Med Genet 1987;27: 537-41
• Crowe C, Jassani M, Dickerman L. The prenatal diagnosis of Walker-Warburg syndrome. Prenat Diagn1986;6:177-85.
• Gershoni-Baruch R, Mandel H, Miller B, Sujou P, Braun J. Walker- Warburg syndrome with microtia and absent auditory canals. Am J Med Genet 1990;37:87-91.
• Ozaltin F, Balci S, Tekinalp G, Akçören Z, Eryılmaz M, Göğüs S, et al. A severe case of Walker- Warburg syndrome with hydrencephalus, cataract, glaucoma, microphtalmia and anorchia in a one day old male infant. Supplement to Madinische Genetici (Excepta Medica Abst )1997;9:29-30.