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  • Küçük Resim
    Öğe
    A case of homocystinuria presenting with unilateral cataract, systemic hypertension and purpura fulminans
    (2013) Yılmaz, Cahide; Güven, Ahmet Sami; Yılmaz, Nebi; Kaya, Avni; Çaksen, Hüseyin; Cesur, Yaşar; Üner, Abdurrahman
    Homosistinüri klininiğinde iskelet, beyin, göz ve vasküler sistem tutulumu görülebilir. Biz ateş, el ve ayaklarda ödem, ellerde morarma şikayetleri getirilen ve takiplerde homosistinüri tanısı alan 7 yaşında erkek olgu sunduk. Bu vaka dolayısı ile katarakt, sistemik hipertansiyon ve purpura fulminanslı hastalarda homosistinürinin düşünülmesi gerektiğini vurgulamak isteriz.
  • [ N/A ]
    Öğe
    Congenital hypothyroidism with isolated fibula agenesis
    (2010) Do?an, Murat; Yilmaz, Cahide; Çaksen, Hüseyin; Cesur, Yaşar; Akpinar, Fuat; Güven, Ahmet Sami
    Although congenital hypothyroidism is seen often as an isolated case, it can also be seen as a part of some syndromes like Schinzel-Giedion, Aicardi-Goutieres-like, cleidocranial dysplasia and deletion of 18q. It is also well known that congenital hypothyroidism may be associated with other congenital malformations, especially with cardiac heart diseases, skeletal abnormalities, Central nervous system and eye malformations. In this article, 11-years-old-girl with fibula agenesis associated with congenital hypothyroidism because of thyroid gland hypoplasia is presented. In our knowledge, both congenital hypothyroidism and isolated fibula agenesis have not been published before in the literature.
  • [ N/A ]
    Öğe
    Late onset arginine succinate lyase deficiency with normal plasma ammonia level
    (2011) Yilmaz, Cahide; Do?an, Murat; Cesur, Yaşar; Çaksen, Hüseyin; Yuca, Sevil Ari; Ataş, Bülent; Tuncer, O?uz
    Arginine succinate lyase (ASL) deficiency is one of the most common cause of urea cycle defect and shows all characteristics of this disorders. This disease is presented with hyperammonemia, abnormally kinky hair and mental retardation. 6-years-old-girl was brought to our hospital because of skin eruption, weight loses, abdominal pain, having no appetite, polydipsia and pollakiuria. In physical examination, especially occipital balding, mental retardation, hepatomegaly, ataxia and articulation defect were found. She, who was diagnosed as ASL deficiency after the laboratory examinations, had normal blood ammonia levels. Finally in this study, we emphasize; ASL deficiency must be thought when a child has mental retardation and cerebellar ataxia, even if normal ammonia levels.