Kaudal regresyon sendronu (sakral agenezi) ile ilgili anomaliler

Mehmet Bülent BALİOĞLU,AKİF ALBAYRAK,Yunus ATICI,Temel TACAL,Deniz KARGIN,Mehmet Akif KAYGUSUZ,Can Hakan YILDIRIM,Hakan ERDOĞAN,Ayşegül BURSALI,Erol TAŞDEMİROĞLU

Abstract

Backround data: CRS also referred to as caudal dysplasia and sacral agenesis syndrome is a rare congenital abnormality in which a segment of the spine and spinal cord fails to develop. The etiology is thought to be related to maternal diabetes, genetic predisposition, teratogens and vascular hypoperfusion, but not true causative factor has been determined. Since there is not a true cure, treatment is diff icult, multidisciplinary, and largely supportive. Lower limb deformities with sensory or motor loss and neurogenic bladder call for intensive and long-term attention. Objective: To evaluate using the Magnetic Resonance Imaging (MRI) results, radiological and clinical data of pediatric patients with spinal problems related to congenital or neuromuscular conditions using the MRI results. Study design: We presented 10 cases of caudal regression syndrome (CRS) among the 65 consecutive pediatric cases that were diagnosed with congenital spinal column deformities that came to Department of Orthopedics and Traumatology, Baltalimani Bone Disease Hospital, İstanbul, Turkey between 2006 and 2009. Material Methods: Clinical and radiological findings were reviewed to classify each patient to Renshaws and Guilles classifications. The mean age was 81 (30-180) months. Clinical and radiological finding of these cases along with life time management were outlined and literature were reviewed. Results: In this study 11.3 % of the patients were diagnosed with CRS in combination with congenital and spina bifida (SB) related spinal deformities. This indicates that the condition may not be as rare as most studies suggest. Our retrospective study allowed us to see the various concomitant conditions which often occur with CRS. Conclussıon: The goal of this study was to show in which variations may CRS patients come into the picture and to provide insight into the CRS and management of this disorder. Caudal Regression Syndrome remains associated with structural and systematic problems including genitourinary, gastrointestinal, orthopedic, neurological, respiratory and cardiac anomalies.First step of the early management of CRS should be an accurate prenatal diagnosis. We need larger studies to determine the utilities of the classifications and to improve them. It is possible that there are under- or misdiagnosed patients in many centers who are under treatment for accompanying disorders. Key words: Caudal regression syndrome, congenital scoliosis, magnetic resonance imaging, sacral agenesis, sacral displasi, spina bifida.

Özet

Çalışma planı: 2006-2009 yılları arası konjenital omurga deformiteli 65 pediatrik hasta arasında kaudal regresyon sendromu (KRS) olan 10 olgu incelendi. Amaç: Konjenital omurga problemleri olan pediatrik hastalar klinik ve radyolojik olarak incelendi, manyetik rezonans görüntüleme sonuçları değerlendirildi. Veriler: KRS (kaudal displazi, sakral agenezi sendromu) omurganın kaudal segmentinin ve spinal kordun gelişme kusuru olarak tanımlanan nadir konjenital anomalisidir. Etiyolojisinin maternal diabet, genetik predispozisyon, teratojenler ve vasküler hipoperfüzyon ile ilişkili olduğu düşünülür. Ancak gerçek bir olumsuz etmen tam olarak tanımlanmamıştır. Kesin bir tedavisi olmamasından dolayı tedavisi güç, multidisipliner ve daha çok destekleyicidir. Sensoriyal veya motor kayıp ile birlikte alt ekstremite deformiteleri ve nörojenik mesane problemleri yoğun ve uzun dönem dikkat gerektirir. Metod: Klinik ve radyolojik bulgular her bir hasta için Renshaw ve Guille sınıfl aması ile değerlendirildi. Ortalama yaş 81 (30- 180) ay idi. Klinik ve radyolojik bulguları ile birlikte literatür bilgisi değerlendirildi. Sonuçlar: Hastaların %11.3 de konjenital ve spina bifi da ile ilişkili KRS bulundu. Çalışmamızda KRS unun bu hasta gurubunda nadir olmadığı, farklı eşlik eden anomalilerin sıklıkla birlikte bulunduğu gösterildi. Tartışma: KRS genitoüriner, gastrointestinal, ortopedik, nörolojik, solunum ve kardiyak anomaliler içeren strüktürel ve sistematik problemler ile ilişkilidir. Tedavi ve önlem için ilk adım doğru prenatal teşhistir. Daha gen