Leopard Syndrome Presented With Hemolytic Anemia, Total Genital Prolapse And Ovarian Agenesis
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Tarih
2012
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Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Leopard sendromu, multipl lentigolar, elektrokardiyografik iletim kusurları, gözde hipertelorizm, pulmoner stenoz, genital anormallikler, büyüme geriliği ve sensorinöral sağırlıkla seyreden otozomal dominant geçiş gösteren nadir, multisistemik bir hastalıktır. Çoğu vaka çocukluk ve ergenlik döneminde bildirilmiş olup, genellikle kalp anormallikleri ve lentigolar şeklinde sunulmuştur. Bizim vakamız ise kardiyak anomaliye bağlı portal hipertansiyon gelişmesi sonucu ileri yaşta tanı almıştır. Ayrıca yatışı sırasında, portal hipertansiyonun neden olduğu diffüz asit, masif splenomegalinin neden olduğu hemolitik anemi saptanmıştır. Olguda genital operasyon öyküsü olmamasına rağmen, ovaryen agenezi ve genital prolapsus tesbit edilmiştir. İleri yaşta tanısı konulan, pulmoner stenoz komplikasyonları gelişmiş olup ovaryen agenezi olan böyle bir vaka, literatürde daha önceden bildirilmemiştir.
The LEOPARD syndrome is a rare autosomal dominant, multisystemic disease characterised by multiple lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth and sensorineural deafness. Most of the cases were reported during their childhood or young adulthood and they usually presented with cardiac anomalies and lentigines. In our case, portal hypertension depending on cardiac anomaly developed at the time of hospital admission because of the late diagnosis of leopard syndrome. Also diffuse ascites caused by portal hypertension and hemolytic anemia caused by massive splenomegaly developed at the time of diagnosis. There was not a genital operation history but ovarian agenesis and genital prolapse were detected. As the diagnosis was established at advanced age, this case was presented with the pulmonary stenosis complications and ovarian agenesis which were not reported before in literature.
The LEOPARD syndrome is a rare autosomal dominant, multisystemic disease characterised by multiple lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth and sensorineural deafness. Most of the cases were reported during their childhood or young adulthood and they usually presented with cardiac anomalies and lentigines. In our case, portal hypertension depending on cardiac anomaly developed at the time of hospital admission because of the late diagnosis of leopard syndrome. Also diffuse ascites caused by portal hypertension and hemolytic anemia caused by massive splenomegaly developed at the time of diagnosis. There was not a genital operation history but ovarian agenesis and genital prolapse were detected. As the diagnosis was established at advanced age, this case was presented with the pulmonary stenosis complications and ovarian agenesis which were not reported before in literature.
Açıklama
Anahtar Kelimeler
Genel ve Dahili Tıp
Kaynak
Düzce Tıp Fakültesi Dergisi
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Cilt
14
Sayı
2
