South Clin Ist Euras. 2015; 26(3): 272-276 | DOI: 10.5505/jkartaltr.2014.52385

Farklý Bulgularý Olan Spina Bifida ve Renal Anomalili Ýki Olgu Sunumu

Hatip Aydýn¹, M. Arzu Yoldaþ², Erkan Yeþiller³, Bilge Geçkinli¹, Ali Karaman¹, Esra Tuð⁴, Meral Yirmibeþ Karaoðuz⁴, Halil Ýbrahim Atasoy^3
1Zeynep Kamil Kadýn Ve Çocuk Hastalýklarý Eðitim Ve Araþtýrma Hastanesi, Genetik Taný Merkezi, Ýstanbul
²Özel Ýbni Sina Hastanesi, Çocuk Hastalýklarý Kliniði, Osmaniye
³Abant Ýzzet Baysal Ünivesitesi Týp Fakültesi, Çocuk Hastalýklarý, Bolu
⁴Gazi Ünivesitesi Týp Fakültesi, Týbbi Genetik Anabilimdalý, Ankara

Nöral tüp defekti embriyonel geliþimin 4 ve 6. haftalar arasýnda tamamlanmasý gereken nöral tüpün kapanma bozukluklarýndan kaynaklanýr. Nöral tüp defektinde en sýk etkilenme kranial kýsým (anensefali) ve alt vertebra seviyesinde (açýk spina bifida, meningomyelosel) görülür. Spina bifida ve renal anomalili dokuz ve 12 yaþýnlarýnda iki erkek olgu deðerlendirildi. Ýlk olguda spina bifida, hidrosefali, pleji, tek taraflý böbrek agenezisi, ikinci olguda spina bifida, hidrosefali, pleji, polidaktili, anal atrezi, böbrek hipoplazisi mevcuttu. Ayný tanýya sahip olmalarýna raðmen iki olgunun bulgularý birbirlerinden oldukça farklýydý.

Anahtar Kelimeler: Anal atrezi, böbrek anomalisi; nöral tüp defekti; polidaktili; spina bifida.

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Two Cases of Spina Bifida and Renal Anomaly with Differing Findings

Hatip Aydýn¹, M. Arzu Yoldaþ², Erkan Yeþiller³, Bilge Geçkinli¹, Ali Karaman¹, Esra Tuð⁴, Meral Yirmibeþ Karaoðuz⁴, Halil Ýbrahim Atasoy^3
1Zeynep Kamil Woman And Children
²Private Ibn Sina Hospital, Department of Pediatrics, Osmaniye, Turkey
³Abant Izzet Baysal University, Medical Faculty, Department of Pediatrics, Bolu, Turkey
⁴Gazi University, Medical Faculty, Department of Medical Genetics, Ankara, Turkey

Neural tube defects arise from failure of embryonic development in 4th–6th weeks. Defects of the cranial region (anencephaly) and lower spine (open spina bifida, myelomeningocele) are the most common neural tube defects. The cases of two male patients aged 9 and 12 years with spina bifida and renal anomaly are described. The first patient presented with unilateral renal agenesis, spina bifida, hydrocephalus, and plegia. The second presented with spina bifida, hydrocephalus, plegia, polydactyly, anal atresia, and unilateral renal hypoplasia. Though both patients had the same neural tube defect, findings differed.

Keywords: Anal atresia, renal anomaly; neural tube defect; polydactyly; spina bifida.

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ATIF KOPYALA