Kursad Aydin

Prevalence of Epilepsy in Turkish Children Between the Ages of 0 and 16 Years

The aim of this cross-sectional study was to determine the prevalence of epilepsy in Turkey among children between the ages of 0 and 16 years. The study population consisted of 24,773,569 children living in Turkey. Because the prevalence of childhood epilepsy is reported to be 0.001 to 1% in the literature, the sample size was determined as 48,260, with 0.05 error type I and 0.10 error type 2 (power 0.90), and the effect size was 2. With the cluster sampling method, samples were selected from cities, towns, districts, and villages, and 46,813 (97%) children were reached. The study questionnaire contained sections with individual informational questions and questions for the selection of suspected epilepsy cases and physical examination results. The epilepsy classification was designed according to the classification of the International League Against Epilepsy (ILAE). The prevalence of epilepsy was determined as 0.8%; 55.2% of the subjects with epilepsy were grouped as generalized, 39% as partial, and 5.8% as unidentified. Age, place of residence, route of delivery, place of delivery, and social and economic status had no statistically significant effect on the development of epilepsy. Male gender, preterm, and post-term delivery increased the risk of developing epilepsy. Early diagnosis and treatment of epilepsy, as well as the education of health workers and families, are very important. (J Child Neurol 2004;19:271-274).

Functional Brain Imaging in Sydenham's Chorea and Streptococcal Tic Disorders

Group A streptococcal infections cause a wide range of neuropsychiatric disorders, such as Sydenhams chorea, tics, obsessive-compulsive disorders, and pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS). Structural (computed tomography and magnetic resonance imaging) and functional (positron emission tomography, single-photon emission computed tomography) imaging studies in patients with Sydenhams chorea have suggested reversible striatal abnormalities. The objective of this study was to investigate the cerebral perfusion patterns of the subcortical structures by using hexamethylpropylenamine oxime single-photon emission computed tomography (HMPAO-SPECT) in seven cases of Sydenhams chorea and two cases of streptococcal tic disorder. HMPAO-SPECT studies revealed a hyperperfusion pattern in two and a hypoperfusion pattern in five of the chorea patients and in two patients with tic disorder. The results are discussed in relation to the duration and severity of the symptoms and the response to therapy. Functional imaging findings can be variable in Sydenhams chorea, and hyperperfusion of the striatum and thalamus could be an indicator of the response to therapy and the severity of symptoms. However, the number of cases so far investigated by either SPECT or positron emission tomography is still too limited to draw any firm conclusions. (J Child Neurol 2004;19:387-390).

Utility of electroencephalography in the evaluation of common neurologic conditions in children.

The objective of this study was to assess the utility of electroencephalography (EEG) in the evaluation of common neurologic conditions in children. The EEG recordings of 534 consecutive children (aged < 20 years) were prospectively read by a certified pediatric neurologist. Common diagnostic indications included the following: clinical seizures (33.8%), definite epilepsy (31.2%), attention-deficit hyperactivity disorder (ADHD) (9.1%), headache (8%), syncope (3.5%), learning disabilities (2%), tic disorders (1.4%), and sleep disorders (1.1%). Overall, 63.8% of EEG records were normal, slowing background activity was noted in 6.1%, ADHD was noted in 35.3% (definite epilepsy), and epileptiform activity was noted in 37.1% of the cases of definite epilepsy and 13.2% of the clinically suspected cases. Epileptiform activity was rarely found in the patients without epilepsy. All EEG records of children with syncope (n = 19) and headache ( n = 43) were normal. These findings indicate that although EEG plays an important diagnostic role in epilepsy, interictal EEG is being overused during evaluation of various neurologic disorders in children, and a normal EEG is highly predictable in children with nonepileptic conditions. ( J Child Neurol 2003; 18: 394—396).

Outcomes of resective surgery in children and adolescents with focal lesional epilepsy: The experience of a tertiary epilepsy center

OBJECTIVE This study aimed to investigate the efficacy of resective surgery in children with focal lesional epilepsy by evaluating the predictive value of pre- and postsurgical factors in terms of seizure freedom. METHODS This study included 61 children aged between 2 and 18years who were admitted to the pediatric video-EEG unit for presurgical workup. Each patient was evaluated with a detailed history, video-EEG, neuroimaging, and postsurgical outcomes according to Engel classification to predict postsurgical seizure freedom. All the possible factors including history, etiology, presurgical evaluation, surgical procedures, and postsurgical results were analyzed for their predictive value for postoperative seizure freedom. RESULTS Of the 61 patients, 75% were diagnosed as having temporal lobe epilepsy (TLE), and 25% were diagnosed with extra-TLE. Two years after the surgery, 78.6% were seizure-free, of which 89% had TLE, and 50% had extra-TLE (p<0.05). Patients were more likely to have a favorable outcome for seizure freedom if they had rare seizure frequency, focal EEG findings, and focal seizures; had a temporal epileptogenic zone; or had TLE and hippocampal sclerosis. On the other hand, patients were more likely to have unfavorable results for seizure freedom if they had younger age of seizure onset, frequent seizures before the surgery, a frontal or multilobar epileptogenic zone, secondarily generalized seizures, extra-TLE with frontal lobe surgery, or focal cortical dysplasia. SIGNIFICANCE Resective surgery is one of the most effective treatment methods in children with intractable epilepsy. A history of young age of seizure onset, frequent seizures before surgery, secondarily generalized seizures, a multilobar epileptogenic zone, frontal lobe surgery, and focal cortical dysplasia (FCD) are the most important predictive factors indicating that a patient would continue having seizures after surgery. On the other hand, focal seizure semiologies, temporal lobe localization, and hippocampal sclerosis indicate that a patient would have better results in terms of seizure freedom.

Epileptic encephalopathy with electrical status epilepticus: An electroclinical study of 59 patients

PURPOSE To evaluate the electroclinical features, treatment effectiveness, and outcome of 59 patients with epileptic encephalopathy with electrical status epilepticus during sleep. METHODS Medical-files of 59 patients with electrical status epilepticus during sleep were retrospectively evaluated for data concerning: history, physical and neurological examinations, sleep and awake EEGs, psychometric tests and brain MRI. RESULTS A total of 31 boys and 28 girls were identified. Patients were evaluated in two groups: symptomatic/structural and idiopathic group. There was no significant difference between the etiological groups in term of mean age at ESES onset, mean interval between the first seizure and the onset of ESES. The mean age at seizure onset was earlier in the symptomatic/structural group than the idiopathic ones. The mean follow-up time after the ESES onset was 4.5 years for all patients. The most effective antiepileptic drugs in our series were clobazam and levetiracetam. In refractory patients, steroid treatment was found effective during the early course of the disease. In the idiopathic group, cognitive decline has improved. However in the symptomatic group, patients did not respond to the treatment and cognitive deterioration did not improve in one third of the group. CONCLUSION The long-term outcome of ESES is highly variable and usually depends on etiology and the duration of ESES. The most efficious antiepileptic drugs in our study are clobazam and levetiracetam.

A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)

Mitochondrial glutamyl-tRNA synthetase is a major component of protein biosynthesis that loads tRNAs with cognate amino acids. Mutations in the gene encoding this enzyme have been associated with a variety of disorders related to oxidative phosphorylation. Here, we present a case of leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) presenting a biphasic clinical course characterized by delayed psychomotor development and seizure. High-throughput sequencing revealed a novel compound heterozygous mutation in mitochondrial glutamyl-tRNA synthetase 2 (EARS2), which appears to be causative of disease symptoms.

Subacute Sclerosing Panencephalitis Presenting as Schizophrenia With an Alpha Coma Pattern in a Child

Subacute sclerosing panencephalitis, a progressive neurodegenerative disorder of the central nervous system, can present atypically with uncharacteristic electroencephalographic (EEG) features at its onset albeit typically with progressive mental deterioration, behavioral changes, and myoclonic jerks. An atypical presentation of subacute sclerosing panencephalitis can lead to a delay in diagnosis, thus hindering early treatment. Herein, we describe a 14-year-old girl who presented with insomnia, amnesia, auditory and visual hallucinations. The patient’s electroencephalography on admission showed an alpha coma pattern. In spite of antipsychiatric treatment (olanzapine 20 mg/d) for 3 months, a progressive deterioration in neurologic function was observed. Subacute sclerosing panencephalitis was suspected and diagnosis was confirmed by increased titers of measles antibodies in the cerebrospinal fluid. The attention of pediatricians should be drawn to psychiatric symptoms as possible initial presentations of subacute sclerosing panencephalitis in order to avoid needless diagnostic and treatment procedures.

Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation

Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis. Leukoencephalopathy with thalamus and brain stem involvement and high lactate (LTBL) is a newly described childhood leukoencephalopathy caused by mutations in the gene encoding a mitochondrial aminoacyl-tRNA synthetase specific for glutamate, EARS2. Magnetic resonance images show a characteristic leukoencephalopathy with thalamic and brain stem involvement. Here, we report a different clinical course of LTBL supported by typical MRI features in a Turkish patient who presented with a history of failure to walk. The EARS2 gene mutation analysis identified a c.322C>T transition, predicting a p.R108W change. This is the first reported early-onset mild type LTBL caused by a homozygous EARS2 mutation case in the literature.

Brain MRI findings in two Turkish pediatric patients with aspartylglucosaminuria.

Aspartylglucosaminuria is a rare lysosomal storage disorder that occurs as a result of a deficiency of the aspartylglucosaminidase enzyme. Because the disease is commonly referred to as the Finnish disease heritage, it is underdiagnosed outside of Finland. To date, only three Turkish patients are described in the literature. Here we describe the clinical and brain magnetic resonance imaging findings in two Turkish cousins with aspartylglucosaminuria, which can raise the suspicion of this rare disease in clinical practice.

Novel mutation in SUCLA2 identified on sequencing analysis

Succinate‐CoA ligase, ADP‐forming, beta subunit (SUCLA2)‐related mitochondrial DNA depletion syndrome is caused by mutations affecting the ADP‐using isoform of the beta subunit in succinyl‐CoA synthase, which is involved in the Krebs cycle. The SUCLA2 protein is found mostly in heart, skeletal muscle, and brain tissues. SUCLA2 mutations result in a mitochondrial disorder that manifests as deafness, lesions in the basal ganglia, and encephalomyopathy accompanied by dystonia. Such mutations are generally associated with mildly increased plasma methylmalonic acid, increased plasma lactate, elevated plasma carnitine esters, and the presence of methylmalonic acid in urine. In this case report, we describe a new mutation in a patient with a succinyl‐CoA synthase deficiency caused by an SUCLA2 defect.