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Seyrek Görülen Bir Konjenital Hipotoni Vakası: Walker Warburg Sendromu

Year 2019, , 159 - 161, 15.09.2019
https://doi.org/10.16948/zktipb.455091

Abstract



























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.

References

  • [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.

A Rare Case of Congenital Hypotonia: Walker Warburg Syndrome

Year 2019, , 159 - 161, 15.09.2019
https://doi.org/10.16948/zktipb.455091

Abstract














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 white matter,
hydrocephalus, corpus callosum 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 dystroglycan deficiency.

References

  • [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.
There are 11 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Case Report
Authors

Selen Hürmüzlü 0000-0001-6533-2944

Serhat Emeksiz

Yasemin Men Atmaca

Ganime Ayar

Alev Güven This is me

Publication Date September 15, 2019
Published in Issue Year 2019

Cite

APA Hürmüzlü, S., Emeksiz, S., Men Atmaca, Y., Ayar, G., et al. (2019). Seyrek Görülen Bir Konjenital Hipotoni Vakası: Walker Warburg Sendromu. Zeynep Kamil Tıp Bülteni, 50(3), 159-161. https://doi.org/10.16948/zktipb.455091
AMA Hürmüzlü S, Emeksiz S, Men Atmaca Y, Ayar G, Güven A. Seyrek Görülen Bir Konjenital Hipotoni Vakası: Walker Warburg Sendromu. Zeynep Kamil Tıp Bülteni. September 2019;50(3):159-161. doi:10.16948/zktipb.455091
Chicago Hürmüzlü, Selen, Serhat Emeksiz, Yasemin Men Atmaca, Ganime Ayar, and Alev Güven. “Seyrek Görülen Bir Konjenital Hipotoni Vakası: Walker Warburg Sendromu”. Zeynep Kamil Tıp Bülteni 50, no. 3 (September 2019): 159-61. https://doi.org/10.16948/zktipb.455091.
EndNote Hürmüzlü S, Emeksiz S, Men Atmaca Y, Ayar G, Güven A (September 1, 2019) Seyrek Görülen Bir Konjenital Hipotoni Vakası: Walker Warburg Sendromu. Zeynep Kamil Tıp Bülteni 50 3 159–161.
IEEE S. Hürmüzlü, S. Emeksiz, Y. Men Atmaca, G. Ayar, and A. Güven, “Seyrek Görülen Bir Konjenital Hipotoni Vakası: Walker Warburg Sendromu”, Zeynep Kamil Tıp Bülteni, vol. 50, no. 3, pp. 159–161, 2019, doi: 10.16948/zktipb.455091.
ISNAD Hürmüzlü, Selen et al. “Seyrek Görülen Bir Konjenital Hipotoni Vakası: Walker Warburg Sendromu”. Zeynep Kamil Tıp Bülteni 50/3 (September 2019), 159-161. https://doi.org/10.16948/zktipb.455091.
JAMA Hürmüzlü S, Emeksiz S, Men Atmaca Y, Ayar G, Güven A. Seyrek Görülen Bir Konjenital Hipotoni Vakası: Walker Warburg Sendromu. Zeynep Kamil Tıp Bülteni. 2019;50:159–161.
MLA Hürmüzlü, Selen et al. “Seyrek Görülen Bir Konjenital Hipotoni Vakası: Walker Warburg Sendromu”. Zeynep Kamil Tıp Bülteni, vol. 50, no. 3, 2019, pp. 159-61, doi:10.16948/zktipb.455091.
Vancouver Hürmüzlü S, Emeksiz S, Men Atmaca Y, Ayar G, Güven A. Seyrek Görülen Bir Konjenital Hipotoni Vakası: Walker Warburg Sendromu. Zeynep Kamil Tıp Bülteni. 2019;50(3):159-61.