Gülen Mert

Hashimoto's encephalopathy: four cases and review of literature

Hashimotos encephalopathy is a rare clinically heterogenous condition consisting of encephalopathy, seizures and variable neurological and psychiatric manifestations, accompanied by high titres of serum antithyroid antibodies. We described the clinical and laboratory findings of four children (aged 8–17 years) with Hashimotos encephalopathy. The clinical features of three patients at presentation included refractory epilepsy, and confusion, and one patient presented with behavioral and cognitive changes. During their presentation, two of them were in euthyroid, and the others were in hypothyroid status. All patients manifested increased antithyroid antibodies. Two patients improved with steroid treatment. The others responded to plasmapheresis instead of corticosteroid treatment. Physicians’ awareness of this complication is of great importance because most patients respond dramatically to the treatment.

Factors Affecting Epilepsy Development and Epilepsy Prognosis in Cerebral Palsy

A study was conducted between November 2006 and October 2009 to determine the factors predicting the presence and prognosis of epilepsy in patients with cerebral palsy. We enrolled 2 groups of patients: 42 with cerebral palsy in group 1 and 56 patients with cerebral palsy and epilepsy in group 2. The subjects in group 2 were considered to have good epilepsy prognosis if they were free of seizures for the previous year; otherwise they were considered to have poor epilepsy prognosis. In group 2, neonatal epilepsy, family history of epilepsy, and moderate to severe mental retardation were significantly higher than in group 1 (P < 0.05). In univariate analysis, neonatal seizures, epileptic activity as measured by electroencephalography, and polytherapy were found to be predictors of poor epilepsy prognosis. Additionally, the need for long-term medication to control seizures unfavorably affects prognosis. In logistic regression analysis, neonatal seizure and interictal epileptic activity in electroencephalography were found to be independent predictors of poor epilepsy outcome. In addition, logistic regression analysis revealed that increasing age reduces the success of epilepsy treatment. Neonatal seizures, family history of epilepsy, and mental retardation were found to be important and independent predictors of development of epilepsy in patients with cerebral palsy.

Prognostic significance of failure of the initial antiepileptic drug in children with benign childhood epilepsy with centrotemporal spikes.

BACKGROUND Benign epilepsy with centrotemporal spikes is the most common partial epilepsy syndrome in children. The long-term prognosis for children with BECTS is believed to be generally excellent with seizures usually responding well to AEDs. The goal of the present study was to determine the risk factors associated with a poor prognosis. METHODS Eighty-four children with BECTS were retrospectively analyzed. Fifty-four (64.3%) were boys and 30 (35.7%) were girls with the mean age at seizure onset 7.1 ± 2.01 years (range: 3-12 years). RESULTS Of the 84 patients, 72 (85.7%) were treated successfully with the first AED (Group A), and 12 (14.3%) failed to responded to the initial AED treatment (Group B [poor prognosis]). Univariate analyses suggested that younger age of seizure onset, presence of generalized seizures, and frequent seizures (>3 prior to the initial treatment) were associated with failure to control seizures with the initial AED. Multivariate analysis suggested that younger age of seizure onset was the independent risk factor predicting a poor response to initial AED treatment. CONCLUSION About 14% of our cohort of children with BECTS continued to have seizures following the initial AED treatment. Further prospective studies are warranted to determine how well prognosis can be predicted by age of seizure onset, type of seizures, and frequency of pre-existing seizures in children with BECTS.

Risk of recurrence after discontinuation of antiepileptic drug therapy in children with epilepsy.

Objectives: The numerous antiepileptic drug (AED) withdrawal studies published in the last 40 years have relied mainly on heterogeneous study groups. There is still no general agreement on the criteria to predict safe discontinuation. The goal of this study was to assess the outcome of AED withdrawal in epileptic children. Materials and Methods: Three hundred and eight children with epilepsy were enrolled, and these patients followed at least 1 year after drug withdrawal. Time to seizure relapse and predictive factors were analyzed by survival methods. Results: Among the 308 patients, 179 (58.1%) were boys and 129 (41.9%) were girls and the mean age at the seizure onset was 60.41 ± 36.54 months (2-144 months). The recurrence occurred in 73 (23.7%) patients. Mental retardation, history of febrile seizure, etiological of epilepsy, abnormal first electroencephalogram (EEG), abnormal neuroimaging findings, and total number of AED before remission were significantly associated with relapse risk according to univariate analysis. In the multivariate analysis, abnormal first EEG and number of AED before remission (polytherapy) were the risk factors influencing seizure recurrence. Conclusions: In our study, recurrence rate was 23.7% in children and most occurred during the 1st year. The potential risk factors of recurrence are history of febrile seizure, mental retardation, etiological of epilepsy, abnormal first EEG, abnormal neuroimaging findings, and total number of AED before remission. However, we found abnormal first EEG and polytherapy as risk factors of recurrence in multivariate analysis.

Epstein-Barr virus encephalitis with substantia nigra involvement

Infectious mononucleosis due to Epstein–Barr virus (EBV) is a usually benign systemic viral illness common in children. Many studies described nervous system manifestations of infectious mononucleosis with a wide spectrum of neurologic deficits. Neurologic complications of EBV are seen in both acute and reactivate infection. Herein, we describe a patient diagnosed by acute EBV encephalitis with substantia nigra involvement and excellent clinical recovery.

Psoriasiform Drug Eruption Associated with Sodium Valproate

As psoriasis is a common skin disorder, knowledge of the factors that may induce, trigger, or exacerbate the disease is of primary importance in clinical practice. Drug intake is a major concern in this respect, as new drugs are constantly being added to the list of factors that may influence the course of the disease. We report a patient with a psoriasiform drug eruption associated with the use of sodium valproate. Physicians should be aware of this type of reaction. Early detection of these cases has practical importance since the identification and elimination of the causative drug are essential for therapy success.

Two novel missense mutations in nonketotic hyperglycinemia.

Nonketotic hyperglycinemia (OMIM no. 605899) is an autosomal recessively inherited glycine encephalopathy, caused by a deficiency in the mitochondrial glycine cleavage system. Here we report 2 neonates who were admitted to the hospital with complaints of respiratory failure and myoclonic seizures with an elevated cerebrospinal fluid/plasma glycine ratio and diagnosed as nonketotic hyperglycinemia. We report these cases as 2 novel homozygous mutations; a missense mutation c.593A>T (p.D198 V) in the glycine decarboxylase gene and a splicing mutation c.339G>A (Q113Q) in the aminomethyltransferase gene were detected. We would like to emphasize the genetic difference of our region in inherited metabolic diseases once again.

Risk factors affecting prognosis in infantile spasm

ABSTRACT Aim: To assess risk factors that affect epilepsy prognosis and neurodevelopmental outcome and response to treatment in patients diagnosed with infantile spasm. Methods: In this study, demographics, treatment modalities, etiologies, risk factors affecting neurodevelopmental outcome and epilepsy prognosis were assessed retrospectively at the end of a minimum 24-months follow-up of 104 patients diagnosed with infantile spasm from May 2012 to October 2015. Results: Neonatal seizure during neonatal period, abnormal head circumference, young age at the time of presentation and early gestational age, symptomatic etiology, abnormal initial examination and abnormal development test at the time of diagnosis, consanguinity, the medical center where treatment was started in the second center or beyond and magnetic resonance imaging finding were found to be statistically significant for poor prognosis in terms of neurodevelopment (p < 0.05). Abnormal initial examination and abnormal development test both at the time of diagnosis and at the end of follow-up, consanguineous parents, young age at the time of presentation, symptomatic etiology, a family history of mental retardation and epilepsy were found to be statistically significant for poor prognosis in terms of epilepsy. Administration of adrenocorticotropic hormone (ACTH) for seizure control was statistically significant compared to other antiepileptic drugs (p < 0.05). Conclusion: Infantile spasm is an age-related epileptic encephalopathy, and it was observed that it is still catastrophic, and that the most important factor affecting prognosis of epilepsy is etiology, age at the time of presentation and the medical center where treatment was started in the second center or beyond.

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.