Selen HÜRMÜZLÜ, Serhat EMEKSİZ, Yasemin MEN ATMACA, Ganime AYAR, Alev GÜVEN

Seyrek Görülen Bir Konjenital Hipotoni Vakası : Walker Warburg Sendromu

Konjenital muskuler distrofiler (KMD) nadir görülen, infant döneminde kas güçsüzlüğü ve motor gelişimde gecikme ile kendini gösteren bir grup hastalıktır. Bunların en ağır formlarından biri Walker Warburg Sendromu (WWS)' dur. WWS otozomal resesif geçişli, beyin ve göz anomalilerinin eşlik ettiği bir hastalıktır. Beyinde tip 2 lizensefali, beyaz cevherde hipomyelinizasyon, hidrosefali, korpus kallosum agenezisi, gözde katarakt, optik sinir displazisi, retinal displazi, lens defektleri görülür. Destek tedavisi verilse de oldukça mortal seyreder, ortalama yaşam ömrü dört ay civarındadır. Burada, klinik ve görüntüleme yöntemleriyle WWS düşünülen, kas biyopsisinde alfa distroglikan eksikliği görülerek tanısı desteklenen bir olgu sunulmuştur.

A Rare Case of Hypotonic Infant: Walker Warburg Syndrome

Congenital muscular dystrophies are a group of rarely seen muscle diseases. They are recognized with muscle weakness and motor delay on infancy. The most severe form of is Walker Warburg Syndrome (WWS). WWS is a rarely seen autosomal recessive inherited disease with serebral and eye abnormalities. Type 2 lissencephaly, hypomyelination in whitematter, hydrocephalus, corpuscallosum agenesis are pathological findings of brain; also cataract, optic nerve dysplasia, retinal dysplasia, lens defects can be detected on eyes. Even with pallative care is given, median survival age is about four months. In this case we suspected WWS with clinical and radiological findings, and performed a muscle biopsy which is shown alpha dystrogly can deficiency.

PDF

___

1. J. Vajsar, Harry Schachter. Walker-Warburg syndrome. Orphanet J. Rare Dis., 2016;1:29
2. Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bönnemann CG, Rutkowski A et al. Evidence-based guideline summary : Evaluation , diagnosis , and management of congenital muscular dystrophy. Neurology. 2015;84:1369-1378.
3. R. D. Cohn. Dystroglycan: Important player in skeletal muscle and beyond. Neuromuscular Disorders, 2005;3:207–217.
4. Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study. Neurology, 2009;21:1802–1809.
5. 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 Derg., 2003.
6. Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A,et al.. Diagnostic criteria for Walker-Warburg syndrome. Am. J. Med. Genet. 1989;2:195–210.
7. Falsaperla R, Praticò AD, Ruggieri M,Parano E, Rizzo, Corsello G ,et al. Congenital muscular dystrophy: From muscle to brain. Italian Journal of Pediatrics, 2016;1:78
8. Kimura S, Sasaki Y, Kobayashi T, Ohtsuki N, Tanaka Y, Hara M,et al. Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome. Brain Dev., 1993;3:182– 191.
9. Haltia M, Leivo I, Somer H, Pihko H, Paetau A, Kivelä Tet al. Muscle-eye-brain disease: A neuropathological study. Ann. Neurol., 1997;2:173–180.
10. R. Gershoni-Baruch, H. Mandel, B. Miller, P. Sujov, and J. Braun. Walker-Warburg syndrome with microtia and absent auditory canals. Am. J. Med. Genet. 1990;1:87–91.
11. Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro Aet al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul. Disord. 2014;4: 289–311.