Şakir Altunbaşak

Intraventricular streptokinase for the treatment of posthaemorrhagic hydrocephalus of preterm.

Posthaemorrhagic hydrocephalus following intraventricular haemorrhage is still one of the most serious complications of premature birth. Small premature babies are not suitable for shunt surgery because of high cerebrospinal fluid protein and risk of obstruction. For this reason there is a great need for alternative approaches for treatment of posthaemorrhagic hydrocephalus. The objective of this study was to investigate if intraventricular streptokinase treatment reduces the need for ventriculoperitoneal shunt in posthaemorrhagic hydrocephalus. A case-control trial was carried out in 12 premature babies with posthaemorrhagic hydrocephalus. Six of them were treated with intraventricular streptokinase and 6 premature babies were in the control group. While 5 babies in the study group needed ventriculoperitoneal shunt, 3 of the control patients needed shunt surgery. There were no rebleeding, ventriculitis or meningitis in either groups. In conclusion on the basis of our results we do not recommend routine use of intraventricular streptokinase in posthaemorrhagic hydrocephalus.

Prognosis of Patients With Seizures Occurring in the First 2 Years

The aim of this study is to determine the prognosis of patients with seizure onset from 1 to 24 months of age in respect to epilepsy, developmental outcome, and neurological status. It also aims to determine predictive factors regarding an unfavorable prognosis. Seventy-five patients were retrospectively analyzed. Univariate analysis revealed the following findings: (1) mental retardation at initial admission, abnormal neurological finding, infantile spasm, use of more than 1 antiepileptic drug, epileptic activity on electroencephalography (EEG) of neonatal seizure, and perinatal anoxia were significant risk factors with regard to developmental outcome; (2) mental retardation at initial admission, abnormal neurological finding, infantile spasm, use of more than 1 antiepileptic drug, epileptic activity on EEG, symptomatic etiology, history of neonatal seizure, and perinatal anoxia were significant risk factors regarding neurological status; and (3) mental retardation at initial admission, neurological abnormality, infantile spasm, use of more than 1 antiepileptic drug, epileptic activity on EEG, status epilepticus, symptomatic etiology, seizure frequency of more than once per week, history of perinatal anoxia, and neonatal seizure were significant risk factors regarding epilepsy prognosis. In addition, multivariate analysis revealed that neurological abnormality and use of more than 1 antiepileptic drug were significant for developmental outcome, that epileptic activity on EEG and use of more than 1 antiepileptic drug were significant for neurological status, and that perinatal anoxia, infantile spasm, and status epilepticus were significant for epilepsy prognosis. These findings suggest that neurological abnormality, use of more than 1 antiepileptic drug, infantile spasm, status epilepticus, and perinatal anoxia are unfavorable predictive risk factors regarding the prognosis of patients with seizures that have an onset from 1 to 24 months of age.

Clinical Characteristics of 10 Patients With Continuous Spikes and Waves During Slow Sleep Syndrome

Continuous spikes and waves during slow sleep syndrome is characterized by the presence of spike-and-wave discharges in at least 85% of non-rapid eye movement sleep. Associated clinical features vary. Here, features of 10 patients with this syndrome are compared to those in the literature. Patients ranged in age from 4 to 11 years. All patients had predominantly nocturnal partial motor or generalized tonic-clonic seizures; four patients also had daily atonic seizures. All 10 patients had different degrees of neuropsychologic disturbances: 9 patients had low intelligence quotient scores (the 10th, diagnosed attention deficit and hyperactivity disorder, had normal intelligence quotient score); 4 patients had autistic-like features. Apart from mental retardation (7 of 10), physical and neurologic findings were normal. Significant pyramidal signs and microcephaly were detected in two patients, and hypotonia, ataxia, and bilateral pyramidal signs were found in one other. Cranial magnetic resonance imaging findings were normal for 6 patients; the other 4 had some abnormal findings. Continuous spikes and waves during slow sleep syndrome is a rare epileptic syndrome in childhood. A variety of clinical and neurocognitive features were found in patients with continuous spikes and waves during slow sleep syndrome.

Effects of Sodium Valproate on Renal Functions in Rats

In recent years, it has been reported that sodium valproate occasionally can cause renal tubular impairment. This study was designed to demonstrate the renal tubular and glomerular functions in rats given sodium valproate as monotherapy, as well as to determine any reversibility of dysfunctions. Female rats were randomly allocated to three groups: group 1 received sodium valproate 500 mg/kg/d intraperitoneal for six weeks; after the same injection period, group 2 was housed for another six weeks, after which laboratory investigations were completed; and group 3 served as a control group made up of 20 healthy rats living in same condition without any treatment. Serum ALT, total protein, uric acid, ALP, phosphorus, sodium levels, and urine Ca/cr ratio were significantly different between groups 1 and 3 (p < 0.025), but this difference was not seen between groups 2 and 3. On the other hand, other parameters such as TRP, Ccr, NAG, and MDA were not significantly different among the three groups ( p > 0.025) These results suggest that SV does not have a significant dose- or time-related side effect on renal functions. Minor biochemical dysfunctions related to long-term sodium valproate therapy is reversible, and the minimal renal fibrosis that showed histopathologically is not clinically important. The renal tissues of rats are known to show similar metabolic and histological patterns with human renal tissues. No renal dysfunction was expected in humans because there were no clinically statistically significant renal side effects in this study.

Cyclosporin Treatment in Three Children With Chronic Inflammatory Demyelinating Neuropathy

Chronic inflammatory demyelinating neuropathy is an uncommon acquired polyneuropathy in children. Oral prednisolone, intravenous methyl prednisolone, and intravenous immunoglobulin are its main initial therapies. In patients resistant to these modalities, other immunosuppressants can be used. We demonstrate the efficacy of cyclosporin in three children with chronic inflammatory demyelinating neuropathy. Two of them were infants. None had adverse effects, except for hirsutism. We conclude that cyclosporin treatment can be effective and safe in chronic inflammatory demyelinating neuropathy, when standard treatments are ineffective. Cyclosporin can also be used safely in infants.

Recurrent cerebral stroke in a thalassemic patient

Hematol Oncol Stem Cell Ther 1(2) April 2008 hemoncstem.edmgr.com 136 T halassemia major (TM) is a congenital hemot lytic disorder caused by decreased production of globin chains. It is known that there is a hight er than normal incidence of thromboembolic events in TM. Silent infarctions have also been documented. hromboembolic events occur at a signiicantly higher incidence statistically in the presence of other hypert coagulability factors, and prophylactic antithrombotic therapy has been suggested in these patients. Several etiologic factors may play a role in the pathogenesis of the hypercoagulable state in thalassemia. We report a case of TM associated with a methylenetetrahydrofot late reductase (MTHFR) mutation in which recurrent cerebral stroke was noted during follow up.

16. kromozomun q kolunda gözlenen kalıtımsal mozaisizm ve fenotipik etkileri

6q parsiyel monozomilerine ender olarak rastlanmaktadir. Bu calismada, 16. kromozomun q22.1→qter bolgesinde degisik duzensizlikler gosteren ve bunlarla birlikte onemli klinik bulgulari bulunan bir erkek cocugu olgusu sunulmaktadir. Hastada; dusuk IQ, konusma guclugu, gec psikomotor gelisme ve yurume, heyecan durumunda el cirpma, sosyal uyumda eksiklik ve akranlariyla uyumlu olamama gibi klinik bulgulara rastlandi. Hastaya ve ailesine standart sitogenetik kromozom analizi yapildi. Sitogenetik analiz sonucunda, 16. kromozomun q22.1 bolgesinde delesyonlara, kiriklara ve frajilitelere rastlandi. Hasta ve babasinin analiz edilen hucrelerinde, sirasiyla %38 ve %26 oranlarinda 16q22.1 bolgesinde yapisal hasarlara rastlandi. Kromozom hasarlarinin fenotipik olarak normal gorunumlu babadan aktarildigi anlasildi. Bu vakadan elde edilen sonuclar, diger q22.1→qter monozomisi vakalari ile karsilastirmali olarak degerlendirildiginde, q22.1→qter delesyon sendromunda gec konusma ve motor yeteneklerin gelisememesi ile iliskili kritik kromozom bolgesi daha da spesifik olarak ortaya cikmistir.

Epilepsi ve Fasiyal Dismorfizm ile Gelen Trizomi 9 Mozaisizm: Bir Olgu Sunumu

Trisomy 9 syndrome is a rare genetic disorder. Trisomy 9 has two forms; 1) mosaic, 2) non-mosaic. The patients usually present similar clinical features, independent of the presence of mosaicism, characterized by growth retardation, mental deficiency and brain, facial, cardiac, renal and skeletal abnormalities. Developmental delay and mental retardation are the most common neurological symptom in trisomy 9 mosaicism in our knowledge. Epilepsy associated with this syndrome has not found in literature. We describe a 10-year-old boy with trisomy 9 mosaicism who presented seizures, and dysmorfic features.

Tekrarlayan Fasiyal Paralizili bir olgu: Melkersson-Rosenthal Sendromu

Melkersson-Rosenthal sendromu (MRS), tekrarlayan fasiyal paralizi, orofasiyal odem, dilde fissurle karakterize nadir bir noromukokutanoz sendromdur. Oligosemptomatik ve monosemptomatik olgular, klasik triaddan sik gorulur. Bulgularin ikisinin gorulmesi veya bulgularin biri ve biyopside granulomatoz keilitin varligi Melkersson-Rosenthal sendromu tanisi icin yeterlidir. Bu yazida Melkersson-Rosenthal sendromu tanisi alan 12 yasinda bir erkek sunulmustur.

Duchenne Müsküler Distrofi ve Gilbert"s Sendromu Birlikteliği: Bir Olgu Sunumu

Gilberts syndrome is characterized by unconjugated hyperbilirubinemia. A 5-year-old boy presented to our hospital with mild hyperbilirubinemia. The patient had persistent unconjugated hyperbilirubinemia with high liver enzymes and creatine phosphokinase. Haemolysis was excluded by normal haemoglobin, and reticulocyte count and finally he was diagnosed to have Gilberts syndrome. His creatine kinase concentration was 15600 U/l, and he had a deletion in the dystrophin gene. Finally, the patient was diagnosed both Gilberts syndrome and Duchenne muscular dystrophy. To our knowledge, this is the first report of the concomitance of Duchenne muscular dystrophy and Gilberts syndrome in the literature.