Author/Authors :
KUTLU, Orkide Konya Eğitim ve Araştırma Hastanesi - İç Hastalıkları Kliniği, Türkiye , SHAHIN, Ibrahim İnönü Üniversitesi - Tıp Fakültesi - İç Hastalıkları Anabilim Dalı, Endokrinoloji Bilim Dalı, Türkiye , SAKIN, Abdullah Sultan Süleyman Eğitim ve Araştırma Hastanesi - İç Hastalıkları Kliniği, Türkiye , EVREN, Bahri İnönü Üniversitesi - Tıp Fakültesi - İç Hastalıkları Anabilim Dalı, Endokrinoloji Bilim Dalı, Türkiye
Abstract :
Septo-optic dysplasia, also known as de Morsier Syndrome is a rare congenital condition. The classic triad features of the syndrome are; midline brain abnormalities, optic nerve hypoplasia and pituitary endocrine dysfunction. The diagnosis of Septo-optic dysplasia is made when two or more features of the classic triad are present. Here, we presented a case with de Morsier Syndrome. The physician diagnosed optic nerve hypoplasis or midline brain abnormalities should be searched for the other findings of the triad of Septo-optic dysplasia and scheduled proper replacement therapy and follow the patient.
NaturalLanguageKeyword :
Septo , optic dysplasia , de Morsier syndrome , Optic disc colobome , Hypogonadotropic hypogonadism
