Cognitive functions in neurofibromatosis type 1 patients and unaffected siblings

Attention, learning, and perceptual problems have been reported at various degrees and rates in neurofibromatosis type 1 (NF1). We aimed to define the cognitive profiles frequently associated with NF1. Children and adolescents with NF1 (n=58) were tested using Wechsler Intelligence Scales for Children- Revised (WISC-R), Judgment of Line Orientation, and Bender Visual-Motor Gestalt tests. Comparison groups were unaffected siblings of NF1 patients (n=20), children with attention deficit and hyperactivity disorder (ADHD, n=40), and normal children (n=40). No difference was found between familial or sporadic NF1 cases. Seventeen/58 (29%) of NF1 cases had a full scale IQ 80 (n=27) scored lower in WISC-R subtests measuring visual perception when compared to a healthy control group of similar intelligence, and lower in arithmetic but better in Bender-Gestalt and Judgment of Line Orientation tests when compared to an ADHD group of similar intelligence. These results indicate a high prevalence of mental retardation in a clinical NF1 series. NF1 patients who have normal intelligence may have impaired visual perception, but their visual perceptual problems are less than in ADHD. The tendency of unaffected siblings of NF1 patients to have mildly but consistently low test scores compared to healthy controls needs to be studied further for underlying genetic or environmental factors

Dirençli parsiyel epilepsili çocuklarda dirençli olmayı haber veren risk faktörlerinin araştırılması

TEZ4706Tez (Uzmanlık) -- Çukurova Üniversitesi, Adana, 2004.Kaynakça (s. 45-48) var.v, 48 s. ; 30 cm.

Infantile cerebral hydatid cyst: A case report

Echinococcus granulosus'un neden olduğu kist hidatik hastalığı, Türkiye'de endemiktir. En çok etkilenen organlar karaciğer ve akciğerlerdir. Serebral kist hidatik çok seyrek görülür. Bu makalede serebral palsi tanısıyla izlenen, hemiparezisi olan iki buçuk yaşındaki bir vaka sunulmuştur. Bu vaka gündeme getirilerek, serebral palsi tanısı konulurken hemiparezinin diğer tedavi edilebilir nedenlerinin ayırt edilmesinin önemi vurgulanmıştır.Hydatid disease caused by Echinococcus granulosus is endemic in Turkey. The most commonly affected organs are the liver and lungs. But cerebral hydatid cysts are rare. We report a 2.5-year-old case with left hemiparesis who had been followed-up as cerebral palsy. We emphasize the significance of excluding the other treatable causes of hemiparesis before giving the diagnosis of cerebral palsy

Levetirasetam ve valproik asid: Çocuklarda karaciğer fonksiyonları ve amonyak düzeyleri üzerine etkileri

Amaç: Levetirasetam ve valproik asidin, serum amonyak düzeyi ve karaciğer fonksiyon testlerinde bir değişikliğe neden olduğuna dair kanıtlar vardır. Bu çalışmanın amacı, valproik asid tedavisi ile karşılaştırıldığında, levetirasetam ile tedavi edilen epilepsili çocuklarda karaciğer fonksiyon parametreleri ve amonyak düzeyinin belirlenmesidir. Materyal ve Metod: Mart 2010 ve Ekim 2010 tarihleri arasında, epilepsili 42 hasta tedavi ettik. Valproik asit ile tedavi edilen 22 çocuk ve levetirasetam ile tedavi edilen 20 çocuk çalışmaya alındı ve serum antiepileptik ilaç düzeyi, transaminazlar, G-glutamil transferaz ve amonyak düzeyleri değerlendirildi. Bulgular: Valproik asit ile tedavi edilen hastalar ile levetirasetam ile tedavi edilen hastalar arasında serum g-glutamil transferaz ve transaminaz düzeyleri arasında herhangi bir farklılık yoktu. Valproik asit ile tedavi edilen hastalarda hiperamonyemi tespit edildi. Sonuç: Bu sonuçlar, levetirasetam tedavisinin serum amonyak düzeyi ve karaciğer fonksiyonlarını değiştirmediğini düşündürmektedir.Purpose: There is evidence that levetiracetam and valproic acid causes a changes of serum ammonia level and liver function tests. The aim of this study was to evaluate the liver function parameters and ammonia level in children with seizures on treatment with levetiracetam in comparison treated with valproic acid. Materıals and Methods: Between March 2010 and October 2010, we treated 42 patients with epilepsy. We determined the serum concentration of antiepileptic drug, transaminases, g-glutamyl transferase, and ammonia level in 22 children treated with valproic acid, and in 20 children treated with levetiracetam. Results: There were no significant differences in the serum transaminases, g-glutamyl transferase between the patients treated with valproic acid, and the patients treated with levetiracetam. Hyperammonemia was detected in patients treated with valproic acid. Conclusıon: These results suggest that the treatment with levetiracetam does not alter the serum ammonia level, and liver functions

Guillain-Barr, syndrome in children

WOS: 000290545700003PubMed ID: 20953812Guillain-Barr, syndrome (GBS) is one of the reasons of acute polyneuropathy causing severe morbidity and mortality. Forty-six patients with GBS were included in our study. Clinical, laboratory, electrophysiological and prognostic features of the patients were evaluated retrospectively. Patients were divided into two groups. Group A consisted of children who attained a full recovery within 2 months from onset of the disease; group B consisted of children who experienced complete or partial recovery beyond 2 months from onset of the disease. Acute inflammatory demyelinating polyradiculoneuropathy was found in 56.5% of patients and axonal form in 43.5% patients. Antecedent events were found in 28 (60.9%) patients. Five patients (10.8%) needed mechanical ventilation and one patient (2.1%) died. Poor outcome was related with clinic stage and electrophysiological subtypes (axonal form). In our study, poor prognostic factors were related with clinic stage and electrophysiological subtypes (axonal form)

Vitamin B12 deficiency and epilepsy in children

Amaç: Nöbet ile başvuran ve vit B12 eksikliği saptadığımız 7 olguyu dikkat çekici olması nedeniyle sunduk. Gereç ve Yöntemler: Hastanemize nöbet ile başvuran ve etyolojide vit B12 eksikliği saptanan hastalar çalışmaya alındı. Hastaların klinik, fizik ve nörolojik muayene bulguları değerlendirildi. Hemogram, periferik yaymaları, vit B12 ve folik asid düzeyleri, annelerin vit B12 ve folik asid düzeyleri ölçüldü. Tüm hastalara serebral manyetik rezonans görüntüleme ve interiktal EEG yapıldı. Bulgular: Çalışmaya alınan 7 hastanın 5'i erkek (%66.7) ve 2'si kız (%33.3) idi. Olguların nöbet tipleri 4'ünde JTK, 1'inde JT ve 2'sinde parsiyel özellikli nöbet şeklindeydi. Hastaların EEG incelemesinde, 3 hastanın 2'sinde jeneralize, diğerinde de fokal epileptik aktivite mevcuttu. Bir hastamız status epileptikus ile başvurmuştu. Laboratuvar incelemede, olguların ve annelerin vit B12 düzeyi ortalaması sırasıyla 59.14±22.04 (30-96) ve 140.43±23.89 (119-170) pg/mL idi. Sonuç: Sonuç olarak vit B12 eksikliği megaloblastik aneminin yanı sıra, ciddi nörolojik bulgular ve nöbetler de yapabilir. Çocukluk çağındaki nöbet ve epilepsi vakalarında vit B12 eksikliği akılda tutulmalıdır.Objective: The abstract presents 7 striking cases who presented with the complaint of seizures showing concomitance of B12 vitamin deficiency. Material and Methods: Participant patients were those who presented at our hospital with seizures caused by B12 vitamin deficiency. Evaluation was based on clinical, physical and neurological signs of the patients. Complete hemogram, peripheral blood view, vitamin B12 level and folic acid level measurements were performed. Cerebral magnetic resonance scans and interictal EEG were performed on all patients. Results: The participant patients were 5 males (66.7%) and 2 females (33.3%) consecutively. The types of seizures were generalized tonic clonic in 4, generalized tonic in one and partial in 2 of the cases. 2 of 3 patient had generalized epileptic activity and the other had focal activity on EEG examination. One of the participants presented with status epilepticus. The median vitamin B12 levels of the cases and their mothers were 59.14±22.04 (30-96) and 140.43±23.89 (119-170) pg/mL consecutively at laboratory findings. Conclusions: Vitamin B12 deficiency may present with either megaloblastic anemia or severe neurological signs and seizures. In childhood seizures and epilepsy, vitamin B12 deficiency must be considered

Landau-Kleffner syndrome: two cases report

Landau-Kleffner sendromu veya edinsel epileptik konuşamama (afazi) normal dil ve motor gelişimi gösteren çocuklarda ortaya çıkan kazanılmış bir konuşamama halidir. Henüz bilinen bir tedavisi olmamasına rağmen, şimdiye kadar valproik asit, yüksek doz metil-prednizolon, adrenokortikotropin hormon, damar içi immünglobülin, klobazam, sultiyam, levatirasetam ve cerrahi tedavi (mutiple subpial transection) kullanılmış ve başarılı sonuçlar bildirilmiştir. Biz de beş ve sekiz yaşında Landau-Kleffner sendromu tanısı konulan iki olgumuza valproik asit ile birlikte önce damar içi immünglobülin, yanıt alamadığımız için sonra yüksek doz metil-prednizolon uyguladık. Damar içi immünglobülin tedavisine iki olgumuzda da yanıt alamadık. Ancak yüksek doz metil prednizolon uyguladığımız olgularımızdan birisinde hem klinik, hem de elektroansefalogram bulgularında düzelme saptadık.Landau-Kleffner syndrome (LKS) or acquired epileptic aphasia is an acquired aphasia in children showing normal language and motor development. Although its treatment is not standardized till now valproic acid (VPA), high dose methyl-prednisolone, adrenocorticotropic hormone, intravenous immunoglobulin (IVIG), clobazam, sulthiam, levatiracetam and surgical treatment (multiple subpial transections) were used and successful results were reported. We just administered high doses of methyl-prednisolone to our five and eight years old two cases of Landau-Kleffner syndrome as we couldn't recieve response to valproic acid in addition to intravenous immungloubulın treatment. However of the cases who received high dose methyl-prednisolone showed clinical and elektroencephalographical improvement

Two different nervous system complications of mycoplasma pneumoniae

Mycoplasma pneumoniae, üst ve alt solunum yolu infeksiyonlarına sebep olan önemli bir etkendir. Solunum sistemi dışında da bazı klinik tablo ve komplikasyonlara yol açabilir. Meningoensefalit, ensefalit, transvers miyelit, akut dissemine ensefalomiyelit, beyinde infarkt ve Gullian-Barre sendromu etkenin sinir sisteminde sebep olduğu hastalıklar olarak belirtilebilir. Bu çalışmada Mycoplasma pneumoniae infeksiyonuna bağlı meningoensefalit ve Gullian-Barre sendromu gelişen iki vaka sunulmuştur.Mycoplasma pneumoniae is an important agent of the lower and upper respiratory system infections. It may result in some complications and clinical conditions other than infections. Meningoencephalitis, encephalitis, transverse myelitis, acute disseminated encephalomyelitis, cerebral infarction and Gullian-Barre syndrome are major neurological complications. We present here two cases with meningoencephalitis and Gullian-Barre syndrome secondary to Mycoplasma pneumoniae infection

Status Epileptikus ile Birlikte Seyreden Sistemik Lupus Eritematozus: Olgu Sunumu

Sistemik lupus eritematozus, merkezi sinir sistemi dahil, çoklu organ tutulumu olan otoimmün bir hastalıktır. Sistemik lupus eritematozus hastalığında nöropsikiyatrik tutulum, hastalığın majör tanı kriterlerinden biridir. Sistemik lupus eritematozuslu hastalarda hem parsiyel hem de jeneralize nöbetler görülebilir. Bu yazıda, başlangıçta status epileptikus epizodu ile kendini gösteren sistemik lupus eritematozuslu yedi yaşında bir kız olgu sunulduSystemic lupus erythematosus is an autoimmune disorder involving multiple organs, including the nervous system. Neuropsychiatric involvement in systemic lupus erythematosus is one of the major manifestations of the disease. Both partial and generalised seizures can occur in patients with systemic lupus erythematosus. In this article, we report a seven-year-old girl with a case of systemic lupus erythematosus who initially presented with an episode of status epilepticu

Oxcarbazepine induced hyponatremia

Oxcarbazepine, which is believed to be better than carbamezepine in pharmacokinetic features and efficacy, is a new antiepileptic drug used for partial and generalized tonic-clonic seizure treatment. We have detected a case with hyponatremia related with oxcarbazepine usage. We beleive that for patients on treatment of oxcarbazepine because of this probable adverse effect, monitorisation for hyponatremia must be considered.Oxcarbazepine, which is believed to be better than carbamezepine in pharmacokinetic features and efficacy, is a new antiepileptic drug used for partial and generalized tonic-clonic seizure treatment. We have detected a case with hyponatremia related with oxcarbazepine usage. We beleive that for patients on treatment of oxcarbazepine because of this probable adverse effect, monitorisation for hyponatremia must be considered