Browsing by Author "Deda, G"

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Case of Marin-Amat Syndrome
(Medecine Et Hygiene, 2003) Deda, G; Çaksen, H; Içagasioglu, I
Combined Genetic Defects in a Child With Ischemic Stroke
(Sage Publications inc, 2002) Deda, G; Içagasioglu, D; Çaksen, H; Akar, N
A 10-year-old Turkish boy was admitted with mild right spastic hemiplegia. First, he experienced sudden numbness and weakness in the right extremities at the age of 2 years and was diagnosed with right hemiparesis. His parents were generally healthy and nonconsanguineous. His mother suffered from deep vein thrombosis of the left lower extremity during pregnancy and had recurrent fetal loss. At the age of 10 years, a thrombophilia marker examination revealed that plasma-free protein S was 49.3% (normal range = 70-123%), and factor VIII level was found to be 470 IU/dL (normal = 150 IU/dL). The patient and his two siblings were found to be heterozygous for factor V Leiden mutation. His mother was also heterozygous for factor V Leiden mutation and had protein S deficiency. A combination of protein S deficiency, factor V Leiden mutation, and a high level of factor VIII was detected in our patient. After his first attack at the age of 2 years, in spite of no prophylaxis, he did not experience any other ischemic insult. To our knowledge, this is the first patient with these combinations of genetic defects and ischemic stroke to be reported in the literature.
Do We Consider Andermann Syndrome in Infants With Agenesis of Corpus Callosum
(Medecine Et Hygiene, 2003) Deda, G; Çaksen, H; Içagasioglu, D
Do we consider Andermann syndrome in infants with agenesis of corpus callosum: Andermann syndrome is characterized by agenesis of corpus callosum, anterior horn cell disease, a mixed sensory and motor neuropathy, and facial dysmorphism, and is inherited as an autosomal recessive trait. A 7-month-old boy was admitted with developmental retardation. Head control was not gained and he could not sit. He had high arched palate, elongated facies and large angle of the mandible, which were compatible with the Andermann syndrome. Moderate hypotonicity and absent tendon reflexes were also noted. Serum creatine kinase level was normal. Magnetic resonance imaging of the brain showed agenesis of the corpus callosum. Electromyographic examination revealed the presence of both sensory and motor neuropathy. The patient was diagnosed as having the Andermann syndrome according to the clinical and laboratory findings and he is reported due to rare presentation.
Does Long-Term Use of Valproate Cause Weight Gain in Prepubertal Epileptic Children
(Taylor & Francis Ltd, 2002) Çaksen, H; Deda, G; Berberoglu, M
In this experiment, we studied the effect of valproate (VPA) on weight gain, and serum leptin levels in prepubertal epileptic children receiving VPA. Our purpose was to determine whether or not long-term use of VPA causes weight gain in childhood, and to evaluate serum leptin levels in a group of prepubertal children receiving VPA. Our study included 15 patients (9 males, 6 females) with new diagnosed epilepsy and 16 healthy age-matched controls (9 males, 7 females). The subjects' ages ranged from 9 months to 12 years. Weight gain was noted in 9 (60%) of 15 patients in the study group, and 8 (50%) of 16 subjects in the control group (p > .05). There was no difference between the groups for body mass index (BMI) and serum leptin levels. Although higher serum leptin levels were found in the patients treated with VPA weight gaining (5.65 +/- 3.06 ng/ml vs. 3.28 +/- 1.69 ng/ml), we did not find a difference between the patients Weight gaining and nonweight gaining (p > .05). While a significant correlation between BMI and serum leptin levels was found in the study group (r = .704; p = .003), it was not significant in the control group (r = .330; p = .211). In conclusion, our findings showed that long-term use of VPA did not cause weight gain in a group of prepubertal children receiving VPA and, parallel to this, serum leptin levels were similar in both the control and study group.
A Fatal Case of Cerebellar Hypoplasia Associated With Anterior Horn Cell Disease
(Medecine Et Hygiene, 2003) Deda, G; Çasken, H; Içagasioglu, D
A fatal case of cerebellar hypoplasia associated with anterior horn cell disease: A 27-month-old girl was admitted with inability to walk and speak. The pregnancy, labor and delivery were unremarkable. She was the second child of first degree consanguineous parents and the other 5-year-old child was healthy. On physical examination, she could sit without aid. Horizontal nystagmus and bilateral optic atrophy were diagnosed. Moderate hypotonicity and muscle atrophy were noted in the lower extremities, and deep tendon reflexes were found to be brisk. Serum creatine kinase level was normal. Brainstem auditory evoked potential was also bilateral normal. Flash visual evoked potential was found to be prolonged bilaterally. Magnetic resonance imaging of the brain showed severe cerebellar hypoplasia and mild cerebral atrophy. Electromyographic examination was consistent with anterior horn cell disease. Muscle biopsy specimen was unremarkable. Genetic analysis was unremarkable. The patient was diagnosed with cerebellar hypoplasia associated with anterior horn cell disease, which was named as amyotrophic cerebellar hypoplasia, Norman's disease or infantile neuronal degeneration in the literature. During the follow-up, the parents said that she died at the age of 34 months, because of probable infection.
Toxic Hepatitis in a Case of Angelman Syndrome Associated With Lennox-Gastaut Syndrome
(Medecine Et Hygiene, 2004) Deda, G; Çaksen, H; Kansu, A; Girgin, N; Suskan, E; Uysal, S; Tükün, A
Toxic hepatitis in a case of Angelman syndrome associated with Lennox-Gastaut syndrome: We report a 26-month-old boy with Angelman syndrome associated with Lennox-Gastaut syndrome, who developed a rash and a persistent toxic hepatitis after lamotrigine was added to valproate therapy. The patient had typical findings of both Angelman and Lennox-Gastaut syndromes. Chromosome analysis performing by FISH analysis showed a deletion in chromosome 15 (q11.2 q11.2). Although some cases of Angelman syndrome associated with Lennox-Gastaut syndrome were reported in the literature, valproate and/or lamotrigine induced toxic hepatitis in Angelman syndrome has hitherto never been described. We conclude that VPA and LTG combination should be given with great caution or avoided in patients with Angelman syndrome.
Very High Serum Creatine Kinase Level in a Child With Dyskinetic Cerebral Palsy
(Elsevier Science Bv, 2002) Deda, G; Çaksen, H; Çiftçi, E; Ince, E; Dogru, Ü