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Öğe A case of hemophilia a presenting with paraparesis following lumbar puncture(2011) Yılmaz, Cahide; Başarslan, Fatmagül; Güven, Ahmet Sami; Çaksen, Hüseyin; Öner, Ahmet Faik; Yılmaz, NebiBesides large intra-joint bleedings that are frequently observed in Hemophilia A, bleeding may also rarely occur in spinal joints. Additional to traumatic or spontaneous hematomas, cord suppression may be occured due to various reasons such as epidural tumor and infections, myelosclerosis and bone tissue suppression that occurs to the enlargement in the bone marrow because of hemolytic anemia and thalassemia. In the present study a 6 months old male who developed paraparesis as a result of spinal compression of a hematoma that occurred after lumbar puncture and then diagnosed with Hemophilia A presented on account of the present case, our aim is to emphasize that perispinal hematoma may lead to paraparesis and that paraparesis may develop due to neurological retention that is rarely seen in children with Hemophilia A.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, AbdurrahmanHomosistinüri 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.Öğe Congenital hypothyroidism with isolated fibula agenesis(2010) Do?an, Murat; Yilmaz, Cahide; Çaksen, Hüseyin; Cesur, Yaşar; Akpinar, Fuat; Güven, Ahmet SamiAlthough 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.