HYPOTONIC INFANT: CLINICAL AND ETIOLOGICAL EVALUATION

Pediatri hekimlerinin özellikle yenidoğan döneminde sık karşılaştığı klinik tablolardan biriside hipotonidir. Hipotoniyi santral (beyin, beyin sapı ve servikal spinal bileşke) ve periferal hipotoni (ön boynuz hücreleri, periferik sinirler, nöromuskuler bileşke ve kaslar) olarak sınıflamak mümkündür. Ancak santral ve/veya periferal sinir sistemini etkileyebilen bazı multisistemik hastalıklar da klinik olarak hipotoni ile karşımıza çıkabilmektedirler. Hipotoniye neden olan durumların ortaya çıkartılmasında, nöroloji, genetik ve metabolizma bölümlerini içeren multidispliner yaklaşım gereklidir. Bu derlemede hipotoniye klinik yaklaşım ve sık görülen hipotoni nedenleri tartışılacaktır. Hypotonia is one of the frequent clinical finding that the pediatricians detected, especially in neonatal period. Hypotonia could be classified as central ( brain, brainstem and cervical spinal junction) and peripheral hypotonia (anterior horn cells, peripheral nerves, neuromuscular junction and muscles). However, multisystemic diseases that can affect central and/or peripheral nervous system may prove to a clinical hypotonia. Multidisciplinary approach is essential to detect the situations that can cause hypotonia, including neurology, genetic and metabolic disorders departments. In this study, the causes and the clinical approach to hypotonia were reviewed

ZONISAMIDE EXPERIENCE IN PATIENTS WITH REFRACTORY EPILEPSY

Amaç: Parsiyel epilepsisi bulunan, > 16 yaş hastalarda zonisamidin güvenilir ve etkin bir antiepileptik ilaç olduğu yapılan kontrollü çalışmalarla gösterilmiştir. Ancak literatürde zonisamidin çocuklarda kullanımı, etkinliği ve güvenilirliği ile ilgili yeterli sayıda çalışma bulunmamaktadır. Gereç ve yöntem: Ocak 2010-Aralık 2010 tarihleri arasında, diğer anti-epileptik ilaçlara yanıt alınamayan ve zonisamid tedavisi başlanan 10 dirençli epilepsi olgusunun tedavi sonuçları değerlendirilmiştir. Zonisamid, 2 mg/kg/gün ve 2 dozda başlanarak, haftalık 1-2 mg/kg/gün doz artışı yapılmış ve maksimum 12 mg/kg/gün dozunda kullanılmıştır. Bulgular: On hastanın (5 kız, 5 erkek) ortalama yaşı 9,7 yıl (min 4,7-max 17)'dir. 2/10 olgu idiyopatik, 3/10 olgu kriptojenik, 5/10 olgu semptomatik epilepsi olarak sınıflandırılmıştır. Tedavi süresi ortalama 6,9 aydır. Olguların 6/10'u jeneralize, 4/10'u parsiyel epilepsi hastasıdır. Jeneralize ve parsiyel epilepsi gruplarında birer olguda ≥ %50 tedavi yanıtı görüldü. Parsiyel epilepsi olarak sınıflandırılan 1 olgunun ise nöbetsiz olduğu tespit edilmiştir. Zonisamid tedavisi süresince sadece 1 olguda geçici iştahsızlık ve kilo kaybı görüldüğü saptanmıştır. Sonuç olarak, antiepileptik ilaçlara yanıt alınamayan, özellikle parsiyel epilepsisi bulunan olgularda zonisamid tedavisinin etkili ve güvenli bir tedavi seçeneği olduğunu düşünmekle beraber daha çok olguyu kapsayan çalışmalarla desteklenmesi gerektiği kanaatindeyiz. Objeçtive: It have shown with controlled studies that, zonisamide is a safe and effective antiepileptic drug in > 16 years of age patients with partial epilepsy. However, there is not enough study on the efficacy and safety of the use zonisamide with children, in literature. Material and method: The treatment results of 10 cases with refractory epilepsy, not responded to the other anti-epileptic drugs and zonisamide therapy was initiated, between January 2010-December 2010, were evaluated, The starting dose of zonisamide was 2 mg / kg / day, dose has been increased weekly by 1-2 mg / kg / day and a maximum of 12 mg / kg / day was used. Results: Ten patients (5 boys, 5 girls), mean age was 9.7 years (min 4.7-max 17 years). 2/ 10 of the cases idiopathic, 3 / 10 of the cases cryptogenic and 5 / 10 of the cases were classified as symptomatic epilepsy. The mean duration of treatment was 6.9 months. 6 / 10 of the cases were generalized and 4 / 10 of the cases were partial epilepsy patient. In each generalized and partial epilepsy groups, ≥ 50% treatment response was seen in one patients. One case who had been classified as partial epilepsy was found as seizure free. In only 1 case, temporary loss of appetite and weight loss was seen during zonisamide therapy. As a result, we thought that zonisamide is effective and safe treatment option, particularly in patients with partial epilepsy who did not respond to other antiepileptic drugs, but more studies are needed to support

IS ROLANDIC EPILEPSY ALWAYS A BENIGN DISEASE?

Rolandik epilepsi, çocukluk çağının sık görülen parsiyel epilepsisidir. Genellikle uykuda gelişen fokal ya da sekonder jeneralize nöbetler görülür. Elektroensefalografide, tek taraflı ya da bilateral sentro-temporal diken dalga deşarjlarının varlığı karakteristiktir. Olguların çoğunda, adolesan dönemde elektroensefalografik ve klinik bulguların normale dönmesi nedeniyle iyi seyirli olarak kabul edilmektedir. Nöbetlerin seyrek olarak görülmesi ve iyi prognozu nedeniyle anti-epileptik tedavi başlanması tartışmalıdır. Bu makalede Rolandik epilepsi bulguları ile izlenen, takipte uykunun elektriksel status epileptikusu, dil, ince motor ve kişisel sosyal alanlarda baskılanma bulguları gelişen bir olgu Rolandik epilepsi seyrinin her zaman iyi huylu olmayabileceğine dikkat çekmek amacıyla sunulmuştur Rolandic epilepsy is a common childhood partial epilepsy. Focal or secondary generalized seizures during sleep are usually developed. On electroencephalography, unilateral or bilateral presence of the centro-temporal spike-wave discharges are characteristic. In most cases, electroencephalographic and clinical findings are return to normal in adolescent period and is considered as a good prognosis. Due to the rare seizures and good prognosis treat with anti-epileptic therapy is controversial. In this study, we presented a patient with Rolandic epilepsy, who developed electrical status epilepticus during sleep, suppression of language, fine motor, and personal social areas to keep attention to the course of Rolandic epilepsy may not be always good-nature

TAY-SACHS HASTALIĞI BULUNAN BİR ERKEK ÇOCUĞUNDA MANYETİK REZONANS GÖRÜNTÜLEME BULGULARI

Tay-Sachs is a neurodegenerative lysosomal storage disease that is caused by the mutations in the HEXA gene. Decreased ß-hexosaminidase A activity leads to the accumulation of the GM2 gangliosides in neuron cytoplasms and causes progressive neurologic dysfunction. Magnetic resonance imaging findings drastically change during the progression of the disease. At the early stage of the disease T2 weighted images demonstrate hyperintense lesions in basal ganglia or non-specific findings. In the late phase of the disease cerebral and cerebellar atrophy, and basal ganglia and white matter T2 hyperintensities can be seen. In this paper, we reported a 17 month-old boy with Tay-Sachs disease whose clinical and magnetic resonance imaging findings progressed in 5 months period. Tay-Sachs HEXA genindeki mutasyonların neden olduğu nörodejeneratif bir lizozomal depo hastalığıdır. ß-heksosaminidaz A aktivitesinin düşüklüğü nedeniyle nöron sitoplazmalarında GM2 gangliozid birikimi ve bunun sonucunda da ilerleyici nörolojik disfonksiyon gelişir. Hastalığın progresyonu ile birlikte beyin manyetik rezonans görüntüleme bulguları da dramatik olarak değişir. Hastalığın erken dönemlerinde bazal ganglionlarda T2 ağırlıklı görüntülerde belirgin hiperintens lezyonlar ya da spesifik olmayan bulgular görülebilir. Hastalığı geç dönemlerinde ise serebral ve serebellar atrofi, bazal ganglion ve beyaz cevherde T2 hiperintens lezyonlar görülebilir. Bu makalede 5 aylık bir sürede klinik ve manyetik rezonans görüntüleme bulguları ilerleyen 17 aylık bir TAY-Sachs hastalığı olgusu sunulmuştu

Electroclinical and Demographic Evaluation of Cases with Self- limited Epilepsy with Centrotemporal Spikes

Objective: This study aims to contribute to our understanding of unknown aspects of this syndrome by evaluating the characteristics of patients with rolandic epilepsy (RE), who applied to our hospital. Methods: The cases diagnosed with “self-limited epilepsy with centrotemporal spikes (SeLECTS)”, who applied to the Pediatric Neurology Department of Dokuz Eylül University Faculty of Medicine between July 2016, and July 2020, were evaluated clinically, electroencephalographically, and psychometrically retrospectively. Results: Ninety-two cases diagnosed with RE were included in the study. The age of seizure onset was mostly observed between the ages of 5-10, with a frequency of 51.1%. Twenty-nine (31.5%) of these cases were followed up by the Child and Adolescent Psychiatry department due to psychiatric comorbidities such as anxiety, anxiety disorder, depression, and attention deficit. After the evaluation of the patients’ first seizure type, it was identified that the seizures of the "generalized tonic-clonic" type were the most common (43.5%). The second most common type of seizure was "focal orofacial motor seizures" (21.8%). Finally, focal clonic seizures took third place (12%). Considering the success rates of the first-line drugs, it was seen that levetiracetam was 86% effective, valproic acid 79.3%, carbamazepine 100%, and oxcarbazepine 100%. Conclusion: Our study suggested considering the necessity of further evaluation of SeLECTS even in patients with generalized tonic-clonic seizures. The presence of psychiatric comorbidities reveals the necessity and importance of assessing these cases, especially in terms of anxiety, anxiety disorder, depression, and attention problems