Ümit ECE, Hacer YAPICIOĞLU, İkram KAVUNCU, Gülseren BİLEN YURDAKUL, Pelin YILDIRIM, Özgü CELİLOĞLU

Meningomiyelosel ve hidrosefali ile birliktelik gösteren Jarcho-Levin sendromlu iki olgu sunumu

Jarcho-Levin sendromu vertebra deformitelerin olduğu ve sinir sistemi, kardiyak, üriner ve gastrointestinal sistemi ilgilendiren birçok anomalinin de eşlik edebildiği bir sendromdur. İnsidansı 2.5/100.000 olup meningomiyelosel ve hidrosefali bu olguların dörtte birine eşlik eder. Hastalar genellikle solunum yetmezliği ile kaybedilirler. Bu yazıda meningomiyelosel ve hidrosefalisi olan ve opere edilen iki spondilotorasik tip Jarcho-Levin olgusu sunulmuştur.

Two cases of jarcho-levin syndrome with meningomyelocele and hydrocephalus

Jarcho-Levin syndrome is associated with vertebra, central nervous system, cardiac, urinary and gastrointestinal system abnormalities. Incidence is 2.5/100000 and meningomyelocel and hydrocephalus is rare, in about 1/4 of the Jarcho-Levin cases. Patients die due to respiratory insufficiency. Here we present two cases of Jarcho-Levin syndrome operated for meningomyelocele and hydrocephalus.

Keywords:

Jarcho-Levin syndrome, meningomyelocele, hydrocephalus,

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1. Jarcho S, Levin PM. Hereditary malformation of the vertebral bodies. Bulletin of Johns Hopkins Hospital 1938;62:216-26.
2. Güzoğlu N, Dilli D, Oğuz SŞ, Kızılelma A, Erdeve Ö, Ceylaner S ve ark. Nöral tüp defektinin eşlik ettiği spondilotorakal tip Jarcho-Levın Sendromu: Bir olgu sunumu. Ankara Üniversitesi Tıp Fakültesi Mecmuası. 2010;63:65-7.
3. Aydın H, Çifçi E, Hekimoğlu B. Jarcho-Levın Sendromu: Spondilokostal Displazili yenidoğanda direkt grafi bulguları. Yeni Tıp Dergisi. 2008;25:245-7.
4. Miscellaneous syndromes. In: Smith’s Recognizable Patterns of Human Malformation. 7th ed (Eds KL Jones, MC Jones, M Casanelles):782-3. Philadelphia, Elsevier Saunders, 2013.
5. Kulkarni ML, Navaz S, Vani HN, Manjunath KS, Matani D. Jarcho Levin Syndrome. Indian J Pediatr. 2006;73:245-7.
6. Gedikbasi A, Yıldırım G, Bingol B, İsmayilzade R, Celikkol O, Ceylan Y. Nöral tüp defekti ve iniensefali ile komplike olmuş Jarcho –Levin Sendromu. Jinekoloji Obstretrik Pediatri Dergisi. 2010;2:89-92.
7. Gucev ZS, Tasic V, Pop-Jordanova N, Sparrow DB, Dunwoodie SL, Ellard S et al. Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: negative mutation analysis of DLL3, MESP2, HES7 and LFNG. Am J Med Genet. 2010;152:1378-82.
8. Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N et al. Mutations in the MESP2 Gene Cause Spondylothoracic Dysostosis/ Jarcho-Levin Syndrome, Am J Hum Genet. 2008;82:1334–41.
9. Dane B, Dane C, Aksoy F, Cetin A, Yayla M. Jarcho-Levin syndrome presenting as neural tube defect: report of four cases and pitfalls of diagnosis. Fetal Diagn Ther. 2007;22:416-9.
10. Mortier GR, Lachman RS, Bocian M, Rimoin DL. Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. Am J Med Genet. 1996;61:310-9.
11. Akın MA, Güneş T, Baykan A, Çoban D, Sezer S, Vatankulu F. Aynı olguda iki nadir hastalık: Jarcho-Levin Sendromu ve komplex kardiyak patoloji. Türkiye Çocuk Hastalıklar Dergisi. 2010;4:104-8.
12. Odacı E, Yıldıran A, Küçüködük Ş, Çiftçi N. Abnormalities may be related defective somitogenesis: multiple vertebral segmentation defects and neural tube defects. Ondokuz Mayıs Üniversitesi Tıp Dergisi. 2001;18:216-24.
13. Chen CP. Syndromes, Disorders and Maternal Risk Factors Associated With Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (II). Taiwan J Obstet Gynecol. 2008;47:10-7.
14. Naik PR, Lendon RG, Barson AJ. A radiological study of vertebral and rib malformations in children with myelomeningocele. Clin Radiol. 1978;29:427-30.