Leopard syndrome presented with hemolytic anemia, total genital prolapse and ovarian agenesis
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Dosyalar
Tarih
2012
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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. © 2012 Düzce Medical Journal.
Açıklama
Anahtar Kelimeler
Hemolytic anemia; Leopard syndrome; Ovarian agenesis
Kaynak
Düzce Tıp Fakültesi Dergisi
WoS Q Değeri
Scopus Q Değeri
Q4
Cilt
14
Sayı
2