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¹Uz. Dr., Antalya Atatürk Devlet Hastanesi, Göz Hastalıkları Bölümü, Antalya, Türkiye
²Uz. Dr., Akdeniz Üniversitesi Tıp Fakültesi, Çocuk Nörolojisi Bilim Dalı, Antalya, Türkiye We wanted to emphasize the importance of ocular examination in an uncommon and lethal metabolic disease, Molybdenum Cofactor Defi ciency, which appears with refractory seizures during early neonatal period. This exteremely rare case is important in recognition and discussion of a less known disease Molybdenum Cofactor defi ciency characterized by lens dislocation and refractory seizures in pediatric patients. Since progression of neurodegenerative disorders may be delayed and refractory seizures may be ceased with appropriate diet and treatment, early diagnosis is extremely important. Keywords : Molybden Cofactor, Lens Dislocation, Ectopia Lentis