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Öğe Arachnoid cyst causing subfalcine herniation in a child failure to thrive(2011) Do?an, Murat; Yilmaz, Cahide; Üstyol, Lokman; Çaksen, HüseyinArachnoid cysts represent only 1% in all intracranial masses. The signal and density of arachnoid cysts are mostly the same as cerebrospinal fluid unless be complicated. They do not have calcification and do not retain contrast material but they are benign lesions. Although they can be seen in all ages, they are mostly detected in children. Male-female ratio is 3:1. In this case report, 18 months-old-boy with subfalcine herniation because of an arachnoid cyst who was brought to our hospital only with complaint of failure to thrive was presented due to its atypical and rare presentation.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.Öğe Kluver-Bucy syndrome developed after convulsion: A case report(2011) Okur, Mesut; Yilmaz, Cahide; Epçaçan, Serdar; Üstyol, Lokman; Kaya, Avni; Çaksen, HüseyinKluver-Bucy syndrome is characterized by increased appetite, hypersexuality, hypermetamorphosis, memory disorders, visual agnosia, stagnancy, aphasia, bulimia, polyuria, and polydipsia. A 14 year old girl had generalized tonic-clonic convulsions at admission, and an incomplete Kluver-Bucy syndrome with hypersexuality, recent memory disturbance, hypermetamorphosis, speech disturbance, hyperactivity, agitation, aggressiveness, and hallucinations, developed the following day. Here in, we report a case of KBS in a child with epilepsy.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?uzArginine 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.Öğe Ophtalmoplegic migraine(2010) Do?an, Murat; Yilmaz, Cahide; Çaksen, Hüseyin; Güven, A. SamiOpthalmoplegic migraine is characterized with recurrent 3rd, 4th and/or 6th nerve palsy during or following ipsilateral periorbital or temporal headache. In this study, we report four years old child with opthalmoplegic migraine because of a rare occasion. The patient was brought to our hospital for the first time due to ptosis following headache, which continued for 4 days. From the history, it was learned that one year ago, ptosis which lasted for one week following headache, had occurred too. Neurological examination was normal except the complete third nerve palsy. Cranial magnetic resonance imaging and electroencephalography examinations were normal. One year later, the patient was brought to us again with the same complaint. Since the attacks were so few we didn't give him migraine proflaxy and we advice him to use analgesic during the attacks. The patient still comes to our hospital for periodic controls.
