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Background: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Since the identification of the responsible gene ("FMR1") and its protein (FMRP), there has been enormous progress in both clinical and pathogenetic research on the neurobehavioural aspects of the condition. However, studies regarding other medical problems anticipated in individuals with FXS are limited. A multidisciplinary study evaluating various causes of morbidity in the same group has not been published yet. Methods: Twenty-four boys with FXS full mutation were recruited out of a larger group of 103 diagnosed in one centre over the past 10 years. Ear nose and throat, eye and cardiac examinations were performed in addition to routine cognitive, behavioural, neurological and speech and language assessments. Results: The average IQ score was 49.8 plus or minus 20 (range 25-90). There were four patients (18%) with IQ above 70. Using DSM-IV, attention deficit hyperactivity disorder was diagnosed in five boys out of 22 examined (23%), while 32% were diagnosed with pervasive developmental disorder. The seizure frequency was 17%. A psychiatric disorder was diagnosed in six out of eight boys with electroencephalogram abnormalities (75%). Minimal conductive hearing loss was found in five (522) patients. There was significant delay in both expressive and receptive language skills. Ocular findings were refractive errors (13%) and strabismus (4.4%). Mitral valve prolapsus (MVP) was observed in 322 (13.7%) patients and aortic annulus dilatation was present in 222 (9%) patients. Conclusions: Frequency of psychiatric diagnoses made with DSM-IV were in parallel to those reported in the literature. Comorbidity of seizures and psychiatric disorders was noteworthy. The percentage of high-functioning full mutation males supports the previous observations. Ear nose and throat and eye examination revealed remarkably lower prevalence of abnormal findings than reported. MVP was slightly less frequent compared with the single study in the literature. Age at the time of examination had an effect on the outcome of cardiac evaluation. These findings will guide us in future management of the group of patients followed in our institution. The protocol applied provides an applicable outline for multidisciplinary institutional settings dealing with individuals with FXS.

Objective: Non-epileptic paroxysmal events (NEPEs) are common in pediatric patients and may be misdiagnosed as epileptic seizures. We aimed to study the distribution of NEPEs across age groups and with different comorbidities, and to correlate the patients' presenting symptoms with their final diagnosis after video-EEG., Methods: We retrospectively analyzed video-EEG recordings of children aged one month to 18 years who were admitted between March 2005 and March 2020. Patients who experienced any NEPE while under video-EEG monitorization were evaluated in this study. Subjects with concomitant epilepsy were also included. The patients were first divided into 14 groups according to the basic characteristics of symptoms they reported at admission. The events captured on video-EEG were then classified into six NEPE categories based on the nature of the events. These groups were compared according to video-EEG results., Results: We retrospectively evaluated 1338 records of 1173 patients. The final diagnosis was non-epileptic paroxysmal event in 226 (19.3%) of 1173 patients. The mean age of the patients was 105.4 ± 64.4 months at the time of the monitoring. The presenting symptoms were motor in 149/226 (65.9%) patients, with jerking being the most common (n = 40, 17.7%). Based on video-EEG, the most common NEPE was psychogenic non-epileptic seizures (PNES) (n = 66, 29.2%), and the most common PNES subtype was major motor movements (n = 19/66, 28.8%). Movement disorders (n = 46, 20.4%) were the second most common NEPE and the most common NEPE (n = 21/60, 35%) in children with developmental delay (n = 60). Other common NEPEs were physiological motor movements during sleep (n = 33, 14.6%), normal behavioral events (n = 31, 13.7%), and sleep disorders (n = 15, 6.6%). Almost half of the patients had a prior diagnosis of epilepsy (n = 105, 46.5%). Following the diagnosis of NEPE, antiseizure medication (ASM) was discontinued in 56 (24.8%) patients., Conclusion: Non-epileptiform paroxysmal events can be difficult to distinguish from epileptic seizures in children, especially in patients with developmental delay, epilepsy, abnormal interictal EEG, or abnormal MRI findings. Correct diagnosis of NEPEs by video-EEG prevents unnecessary ASM exposure in children and guides appropriate management of NEPEs., Competing Interests: Declaration of Competing Interest This study was presented as platform presentation at the International Child Neurology Congress, Antalya, Turkey, on 3–7 Oct 2022. None of the authors has any conflicts of interest to disclose. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines., (Copyright © 2023 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)

Introduction: Vagus nerve stimulation (VNS) has been used as an adjunctive therapy for both children and adults with refractory epilepsy, over the last two decades. In this study, we aimed to evaluate the long-term effects and tolerability of VNS in the pediatric drug-resistant epilepsy (DRE) and to identify the predictive factors for responsiveness to VNS., Methods: We retrospectively reviewed the medical records of pediatric patients who underwent VNS implantation between 1997 and 2018. Patients with ≥50% reduction of seizure frequency compared with the baseline were defined as "responders". The clinical characteristics of responders and nonresponders were compared., Results: A total of 58 children (male/female: 40/18) with a mean follow-up duration of 5.7 years (3 months to 20 years) were included. The mean age at implantation was 12.4 years (4.5 to 18.5 years). Approximately half (45%) of our patients were responders, including 3 patients (5.8%) who achieved seizure freedom during follow-up. The age of seizure-onset, duration of epilepsy, age at implantation, and etiologies of epilepsy showed no significant difference between responders and nonresponders. Responders were more likely to have focal or multifocal epileptiform discharges (63%) on interictal electroencephalogram (EEG), when compared to nonresponders (36%) (p = .07). Vocal disturbances and paresthesias were the most common side effects, and in two patients, VNS was removed because of local reaction., Conclusion: Our series had a diverse etiological profile and patients with transition to adult care. Long-term follow-up showed that VNS is an effective and well-tolerated treatment modality for refractory childhood onset epilepsy. Age at implantation, duration of epilepsy and underlying etiology are not found to be predictors of responsiveness to VNS. Higher response rates were observed for a subset of patients with focal epileptiform discharges., Competing Interests: Declaration of competing interest The authors have declared that no conflict of interest exits., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Objective: Antiepileptic drugs (AEDs) have cognitive side effects that, particularly in children, may affect intellectual functioning. With the TimeToStop (TTS) study, we showed that timing of AED withdrawal does not majorly influence long-term seizure outcomes. We now aimed to evaluate the effect of AED withdrawal on postoperative intelligence quotient (IQ), and change in IQ (delta IQ) following pediatric epilepsy surgery., Methods: We collected IQ scores of children from the TTS cohort with both pre- and postoperative neuropsychological assessments (NPAs; n = 301) and analyzed whether reduction of AEDs prior to the latest NPA was related to postoperative IQ and delta IQ, using linear regression analyses. Factors previously identified as independently relating to (delta) IQ, and currently identified predictors of (delta) IQ, were considered possible confounders and used for adjustment. Additionally, we adjusted for a compound propensity score that contained previously identified determinants of timing of AED withdrawal., Results: Mean interval to the latest NPA was 19.8 ± 18.9 months. Reduction of AEDs at the latest NPA significantly improved postoperative IQ and delta IQ (adjusted regression coefficient [RC] = 3.4, 95% confidence interval [CI] = 0.6-6.2, p = 0.018 and RC = 4.5, 95% CI = 1.7-7.4, p = 0.002), as did complete withdrawal (RC = 4.8, 95% CI = 1.4-8.3, p = 0.006 and RC = 5.1, 95% CI = 1.5-8.7, p = 0.006). AED reduction also predicted ≥ 10-point IQ increase (p = 0.019). The higher the number of AEDs reduced, the higher was the IQ (gain) after surgery (RC = 2.2, 95% CI = 0.6-3.7, p = 0.007 and RC = 2.6, 95% CI = 1.0-4.2, p = 0.001, IQ points per AED reduced)., Interpretation: Start of AED withdrawal, number of AEDs reduced, and complete AED withdrawal were associated with improved postoperative IQ scores and gain in IQ, independent of other determinants of cognitive outcome., (© 2015 American Neurological Association.)

Objective: The aim of this study was to evaluate the clinical and imaging characteristics, treatment results, and prognosis of patients with electrical status epilepticus during sleep (ESES)., Method: A total of 22 patients with ESES pattern on EEG were retrospectively studied., Results: The first neurological symptoms were seen at a mean age of 4.4years. The first symptoms in 77% of the patients were seizures. Other symptoms were hyperactivity, restlessness, insomnia, disinhibition, autistic behavior, speech retardation and deterioration in school performance. Diagnosis of ESES was made at a mean age of 7.45years, approximately 3years after the first symptom. Magnetic resonance imaging (MRI) was abnormal in 36% of the patients. Single photon emission computed tomography (SPECT) showed focal hypoperfusion after resolution of ESES involving left temporoparietal and right posterior temporal areas in four patients including three with normal MRI, and one with periventricular leukomalacia without focal cortical lesion. First line treatment with valproic acid monotherapy was not effective. Electrical status epilepticus during sleep disappeared in 82% of the patients on clobazam and 70% of the patients on clonazepam in combination with valproic acid within a few months. Topiramate was not found to be effective. A significant decrease in intelligence quotient (IQ) scores was found in 66% of the patients compared to the baseline., Conclusions: ESES should be considered in children with new onset behavioral, cognitive, and speech problems with or without seizures. The high frequency of focal seizures and focal findings on SPECT suggest a focal origin. Clonazepam and clobazam were most effective in our cohort., (Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)

Hemimegalencephaly is a rare neuronal migration disorder that can be defined as abnormal neural and glial proliferation localized to all or part of a cerebral hemisphere. Most patients demonstrate intractable epilepsy, with early onset before 1 year of age. Surgical resection is one of the treatment options. In recent years, many advanced intraoperative techniques have been used for brain surgery for various pathologies. Intraoperative ultrasonography is a time-saving and noninvasive method for intraoperative imaging. In this report, we present the use of intraoperative ultrasonography in a patient with focal megalencephaly as an anatomical navigation with the functional navigation system, electrocorticography. In this report, we present the use of intraoperative ultrasonography in a patient with focal megalencephaly as an anatomical navigation with the functional navigation system, electrocorticography.

Absence seizures are idiopathic epilepsies characterized by impairment of consciousness and generalized 2.5-4 Hz spike and slow wave discharges. This prospective study was performed to classify and define properties of subgroups of absence epilepsies. We included 31 patients, of whom seven were in the differential diagnosis group. On admission, absence epilepsy provisional diagnosis was considered in 16 patients clinically and in the other 15 patients based on routine EEG findings. Ictal EEGs were recorded by video-EEG monitoring in 23 of the patients (totally 202 ictal recordings). Patients were diagnosed as childhood absence epilepsy (n=8), juvenile absence epilepsy (n=10), juvenile myoclonic epilepsy (n=3), eyelid myoclonia with absences (n=2), and perioral myoclonia with absences (n=1). Neuroimaging, video-EEG monitoring and especially ictal recordings are important for classification of epilepsies in addition to history, physical examination and routine EEG findings. Video-EEG monitoring is required to classify, to make differential diagnosis and to determine the treatment plan and prognosis.

Objectives: After a reasonable seizure-free period, discontinuation of antiepileptic drugs (AED) is usually decided in epileptic patients despite the risk of seizure recurrence. In children, risk of recurrence after discontinuation of AED is generally 20-40%; however, there is still no general agreement on the criteria to predict safe discontinuation. This study was designed to determine the risk of recurrence and related risk factors after drug withdrawal in epileptic children., Methods: 200 epileptic patients between 1 month and 15 years of age who were followed at least 1 year after drug withdrawal at a child neurology center between January 1993 and December 2005 formed the study population of this retrospective study. Patients were classified into groups according to defined risk factors for recurrence., Results: Of 200 patients (118 boys, 82 girls), overall recurrence rate was 27%. Girls were more likely to have a seizure recurrence than boys, with the difference approaching statistical significance (p=0.058). EEG recordings after withdrawal (post-withdrawal EEG) in the follow-up were significantly different in the patients with recurrence with respect to presence of an abnormality (p=0.05). In the multivariate Cox regression analysis, female gender and abnormal post-withdrawal EEG were the risk factors influencing seizure recurrence, with female gender identified as the main risk factor., Conclusions: Although the decision to discontinue AED treatment necessitates evaluation of each patient individually, our study suggests that female patients and those with abnormal EEG after withdrawal require more cautious follow-up because of the high risk of recurrence.

Introduction: Dysembryoplastic neuroepithelial tumors (DNTs) were first described by Daumas-Duport et al. in 1988 as a typically cortical tumor affecting young patients with long-standing, drug-resistant epilepsy., Methods: We reviewed the medical records of 29 patients with DNT between 1994 and 2007 at Hacettepe University Children's Hospital retrospectively; age at the time of surgery, age at seizure onset, electroencephalography (EEG), MRI, medical treatment, surgical procedure, seizure outcome, and pathological findings were documented., Results: Male to female ratio was 15/14. Age at the time of evaluation ranged 4-24 years. Twenty-seven patients (93.1%) had complex partial seizures, one (3.44%) had simple partial seizures, and one patient had generalized seizures. Preop interictal EEG showed epileptiform discharges in 24 patients, while in five patients interictal EEG before surgery showed no epileptiform discharges. Pathologically, 24 of our patients were classified as complex type and five as simple type. MRI showed temporal lesion in 20 (68.9%) patients and nine patients had extratemporal DNT. We choose the type of surgery according to lesion and the epileptojenic zone. Finally, 27 patients had Engel Class IA and two patients had Engel Class IB outcome., Conclusion: Complete resection of the lesion with epileptojenic zone is important for seizure-free outcome. Timing of surgery, extent of surgery, and stopping antiepileptic drugs are still important factors.

We studied the efficacy and side effect profile oflamotrigine (LTG) in children with intractable epilepsy. We reviewed the database of our prolonged video-EEG laboratory to screen patients with intractable epilepsy who were on LTG either alone or in combination for three months or more. Of 75 patients, 28 patients (37%) had primary generalized seizures, 42 patients (56%) had partial onset seizures with or without secondary generalization, and 5 patients (7%) had two or more types of seizures. LTG reduced seizure frequency by at least 50% in 57.1% of patients with partial seizures and in 53.6% of patients with primary generalized seizures. The incidence of adverse events was relatively low (15%); the most common was skin rash. LTG should be considered in the treatment of pediatric patients with both partial onset and primary generalized seizures refractory to the major older antiepileptic drugs. LTG has a favorable side effect profile.

This investigation examined psychopathology and IQ levels in 30 children with CSWS and 42 children with BRE and compared them with 40 healthy controls and 23 children with absence epilepsy by using the Schedule for Affective Disorders and Schizophrenia for School-Age Children (K-SADS) and Wechsler Intelligence Test for Children (WISC-R). The CSWS and BRE groups had the highest rate of psychiatric diagnoses and lowest IQ scores. The BRE group had higher rates of psychopathology and lower IQ scores compared to the healthy controls. While BRE and absence groups did not differ with regard to presence of psychopathology, IQ levels and types of psychopathologies, children with CSWS had more psychiatric disorders and lower IQ scores compared to the patient group with absence epilepsy. These findings suggest that CSWS and BRE are two epileptic syndromes that lead to psychiatric disorders and lower IQ scores. Hence, psychiatric consultation should be a part of the treatment while managing these children.

Imaging features of infants who suffered from brain damage as a result of neonatal hypoglycemia were shown to have similar patterns, and to affect the parietal and occipital lobes most severely. Long term follow up regarding clinical outcome of patients with neonatal hypoglycemia and this pattern of damage are limited. We reviewed the medical records of 24 patients with typical neuroimaging features seen following neonatal hypoglycemia; we report neurological outcome in 13 of them who have documented hypoglycemia. Except for one patient, all patients had prenatal and perinatal problems including prematurity, perinatal hypoxia, intrauterine growth retardation, sepsis, indirect hyperbilirubinemia. All but one patient had symptomatic partial epilepsy, five of them were medically intractable. Other neurologic problems included developmental delays, learning and behavior problems, hyperactivity and attention difficulties, autistic features, microcephaly and cortical blindness. We conclude that early diagnosis and treatment of neonatal hypoglycemia is crucial to prevent future neurological sequelae, especially in patients with additional perinatal risk factors.

Patients with malformations of cortical development (MCD) present with a wide spectrum of clinical manifestations ranging from asymptomatic cases to those with epilepsy and neurodevelopmental problems. Thorough clinical delineation of patients with MCD may provide clues for future phenotype-genotype correlation studies. We studied clinical features of patients with MCD, including developmental risk factors and family history. We evaluated 10 patients with MCD at Hacettepe University Children's Hospital, Department of Pediatric Neurology. All patients underwent neurological evaluation with detailed medical and family history, and neuropsychological evaluation. Routine EEG and MRI were obtained. The patients were between 1 month and 19 years of age (mean: 6.1 +/- 4.4 years). Fifty-four patients were diagnosed with polymicrogyria (PMG), 23 patients with lissencephaly, 12 patients with schizencephaly, and 12 patients with heterotopia. Parents were relatives in 31.7% of the cases; consanguinity was most common in patients with lissencephaly and other MCDs with diffuse/bilateral involvement. Initial clinical presentation was seizures in 61.4% of the cases, developmental delays in 12.9%, and microcephaly in 9.9%. Neurological evaluation revealed most severe abnormalities in patients with lissencephaly, and relatively better outcome in patients with heterotopias. Cognitive functions were better in patients with heterotopias compared to other groups. Overall, 71.3% of patients ha epilepsy. In conclusion, initial presentation and clinical course of patients with MCD are variable and seem to be correlated with the extent of cortical involvement. Epilepsy and mental retardation are the most common problems. The most severe clinical outcome was seen in patients with lissencephaly.

Malformations of cortical development (MCD) form a spectrum of lesions produced by insult to the developing neocortex. Clinical presentation and electrophysiologic findings of MCD are variable and depend on the affected cortical area. We evaluated epilepsy, EEG, and response to antiepileptic treatment in patients with MCD with respect to the neuroimaging findings. We studied 101 patients, ranging between 1 month and 19 years of age. Fifty-four patients were diagnosed with polymicrogyria (PMG), 23 patients with lissencephaly, 12 patients with schizencephaly, and 12 patients with heterotopia. With regards to epilepsy and seizure type, 72/101 (71.3%) patients had epilepsy, and 62/101 (61.4%) patients presented with seizures. Overall, 32.7% of patients had generalized seizures, and 25.7% had complex partial seizures. Mean age at the onset of seizures was 2.7 +/- 3.4 years. The onset of epilepsy tended to be younger in patients with lissencephaly and older in patients with heterotopias. Of the cases, 79.2% had abnormal EEG (56.3% with epileptiform abnormality, 22.9% with non-epileptiform abnormality). EEG was abnormal in 44.9% (13/29) of the cases without epilepsy. EEG showed bilateral synchronous and diffuse epileptiform discharges in 90% of patients with lissencephaly. Patients with schizencephaly had mostly focal epileptiform discharges. Heterotopia cases had a high rate of EEG abnormalities (72.7%). Patients with PMG had epileptiform abnormality in 59.5% of the cases. Patients with heterotopias and PMG achieved better seizure control in comparison with the other groups. In conclusion, epilepsy is the most common problem in MCD. Epilepsy and EEG findings of patients with MCD are variable and seem to be correlated with the extent of cortical involvement.

Cyclic vomiting syndrome is a disorder characterized by recurrent attacks of vomiting and intervals of normal health between vomiting episodes averaging 2-4 weeks. It has been described by a variety of names such as abdominal migraine, abdominal epilepsy, and periodic syndrome but now has been classified in the subgroup of childhood periodic syndromes that are commonly precursors of migraine. Topiramate is an antiepileptic drug used both in the treatment of epilepsy and in migraine prophylaxis. This report presents a child with cyclic vomiting syndrome with generalized epileptiform discharges who responded to topiramate therapy. The common features of epilepsy, migraine, and cyclic vomiting syndrome are discussed.

Introduction: Epilepsy surgery is a standard of care in the treatment of medically intractable epilepsy. Twenty five percent of patients with intractable epilepsy in childhood can be candidates for epilepsy surgery. Corpus callosotomy is a surgical treatment option for patients with potentially injurious drop attacks and disabling generalized seizures. Postoperative improvement of cognition and speech are important gains after epilepsy surgery particularly during childhood. The aim of this study is to evaluate the outcome of corpus callosotomy for the treatment of childhood onset medically intractable epilepsy in a developing pediatric epilepsy surgery center., Method: We report 16 patients who underwent two thirds anterior corpus callosotomy for treatment of refractory seizures in childhood., Results: All patients had drop attacks or multiple types of seizures, yet some showed focal onset with secondary generalization on electroencephalogram (EEG). One patient was seizure free (class 1 outcome), five had class 2A outcome, five had class 2B outcome, and five had class 3 outcome. Overall 11/16 (69%) of our patients improved significantly after anterior callosotomy., Conclusion: Corpus callosotomy remains to be a fairly good choice of surgical treatment for childhood onset medically intractable epilepsy in selected patients.

New generation antiepileptic medications have improved seizure outcome in patients with intractable epilepsy. We studied the efficacy and side effect profile of vigabatrin (VGB) in pediatric patients with intractable seizure disorder. We reviewed the database of our short-term video-EEG monitoring laboratory to screen patients with intractable epilepsy who were on VGB either alone or in combination for three months or more. We subsequently reviewed the medical records of these patients to abstract clinical information regarding age, sex, seizure type, epilepsy syndrome, efficacy and side effects of VGB. Of 111 patients, 75 (68%) were male and 36 (32%) female. Seizure onset was during the newborn period in 12 patients (11%), during the first year of life beyond the newborn period in 47 patients (42%), between 1-5 years in 23 patients (21%), and above five years in the remaining 29 patients (26%). Fifty-four patients (48.6%) had partial onset seizures with or without secondary generalization; 49 patients (44.1%) had primary generalized seizures; 8 patients (7.2%) had two or more types of seizure. Fifty-three percent of patients had mental retardation, and 35% had abnormal findings on physical/ neurological examination. Of 98 patients, 70 (71.4%) had abnormal magnetic resonance imaging (MRI) findings. Ninety-seven percent of patients had been on polytherapy before VGB was added to treatment. VGB reduced seizure frequency by at least 50% in 33.3% of patients with partial seizures, and in 30.6% of patients with primary generalized seizures. Six of the responders with partial seizures had complete resolution of their seizures. Most common side effects included visual field defects, increased appetite and obesity. Vigabatrin seems to be more effective in partial seizures in childhood intractable epilepsy. Patients should be closely monitored regarding side effects of VGB.

Early myoclonic encephalopathy (EME) is a rare malignant epileptic syndrome. The erratic myoclonus with or without focal motor seizures, time of onset before 3 months of age, and suppression-burst (SB) pattern in EEG are accepted as the diagnostic criteria for EME. We report a 40-day-old infant with the diagnosis of non-ketotic hyperglycinemia (NKHG). The infant developed myoclonic and focal tonic seizures on the first day of life. His first sleep EEG recorded after onset of seizure was normal. Because of the diagnosis of NKHG and early developed myoclonic seizure, we thought the infant might be EME, and repeated sleep EEG on admission in which asymmetrical SB pattern was seen. We concluded that the absence of SB pattern in the first EEG recording does not exclude the diagnosis of EME, but repetition of EEG is necessary to demonstrate the presence of SB pattern to meet the diagnostic criteria for EME.

Object: Slow-growing, low-grade temporal lobe tumors are one of the most common causes of epilepsy in children. Although there are numerous consistent features in this patient group, consensus about the management and surgical approach is lacking. In this study the authors review the clinical, pathological, and radiological features as well as outcome data obtained in 29 pediatric patients with temporal lobe tumor-related epilepsy and discuss the surgical treatment strategies., Methods: In patients who presented with intractable seizures secondary to mass lesions and underwent comprehensive epilepsy workup, the tumor was resected and the diagnosis confirmed by pathological examination. A minimum follow-up period of 16 months was required. Medical records were reviewed for details of seizure type and duration, electrophysiological data, imaging studies, operative notes, pathological examination reports, and follow-up data. The surgical approach was as follows. The lesionectomy with/without cortical resection was performed in all cases of lateral temporal tumors. Lesionectomy was performed with/without cortical resection in cases of basal temporal tumors if the mesial structures were radiologically normal. Mesial temporal tumors were excised, as were the remaining mesial temporal structures in the nondominant hemisphere; however, if the tumor was in the dominant hemisphere, lesionectomy was performed only if the remaining mesial structures were radiologically normal. Twenty-nine patients between 2 and 18 years of age were identified. Most tumors were located in the mesial temporal lobe. All patients underwent resection of the tumor with or without mesial and cortical structures. The most common pathological entity was dysembryoplastic neuroepithelial tumor. Sixty-nine percent of the patients remained seizure free (Engel Class I) and 14% experienced significant improvement (Engel Class II) after surgery. Outcome was better in the patients who underwent gross-total tumor resection., Conclusions: Mesially located low-grade neoplasms were the most frequently observed mass lesions in children with temporal tumor-related epilepsy in this series. Resection of the tumor with or without amygdalohippocampectomy provides a high rate of seizure-free outcome. It is the author's opinion that temporal lobe tumors should be managed based on the subgroups defined by their anatomical locations. If the tumor is located in or in proximity to eloquent cortex, we recommend functional magnetic resonance imaging and invasive monitoring techniques to map the eloquent cortex and epileptogenic zone, thereby tailoring the resection.

Neurophysiologic abnormalities are frequently seen in organic acidemias, but knowledge of the specific changes in the different types of organic acidemias is lacking. We studied electroencephalogram (EEG), visual evoked potential (VEP) and brain-stem auditory evoked response (BAER) in seven children with glutaric aciduria type I (GA1) to assess the neurophysiologic features in this rare inborn error of metabolism. Age at the time of the diagnosis ranged between 3 months and 36 months. Age at the time of neurophysiologic evaluation ranged between 11 months and 36 months. At the time of neurophysiologic evaluation, severe global developmental delay was seen in four patients, dystonia in four patients, motor delay in two patients, and axial hypotonia in two patients; macrocephaly, spasticity, moderate mental retardation and borderline intelligence were each seen in one patient. One patient had autistic features characterized by lack of language and social skills, poor eye contact and stereotypical behavior. Three of seven patients showed abnormal EEG findings. Two patients showed asymmetry with intermittent occipital delta slowing in one hemisphere. This finding probably indicates underlying cerebral dysfunction, and is not a specific feature. However, it suggests that these patients may develop abnormal EEG features during the course of the disease, and thus a baseline EEG may be useful for comparison over time. One patient showed high amplitude bursts of beta in the occipital regions with left predominance while on clonazepam and baclofen. We believe this finding was due to medication effect, and that what we observed was an exaggarated response to benzodiazepine. The clinical significance of this finding is unclear. VEP and BAER were available in four patients, and we found abnormalities in three of them. Neurophysiologic evaluation may be helpful in patients with GA1 as in other types of organic acidemias to help detect subtle changes that are not reflected by neurological examination or neuroimaging studies, and it may guide future treatment plans. Detailed neurophysiologic analysis in a large series of GA1 may yield further information regarding the extent of cerebral dysfunction.

Severe type I plasminogen deficiency is the underlying cause of ligneous conjunctivitis (LC). Furthermore, pseudomembranes may also be found on other mucous membranes (gastrointestinal tract, bronchial system, genital tract). In very rare cases, congenital hydrocephalus has been associated with the more severe forms of the disease and may even precede LC. The pathophysiological mechanism is unclear at present. It is advisable to look for plasminogen deficiency in patients with congenital hydrocephalus, because obstruction of ventriculoperitoneal shunts is possible when such a condition is overlooked. Here, we report a case of LC with hydrocephalus. This report reemphasizes the association of LC with hydrocephalus which is not well known.

L-2-hydroxyglutaric aciduria (L2HGA) is a chronic slowly progressive neurodegenerative disease characterized mainly by psychomotor developmental delay and cerebellar dysfunction. We report the clinical, biochemical, and neuroimaging features of 29 patients from 22 families. The mean age at the time of diagnosis was 13.4 years (2.5-32 years). The mean follow-up period of patients was four years (1.5-16 years). The main clinical findings were mental retardation and cerebellar involvement with ataxic gait and intentional tremor. Additional findings were mental retardation, macrocephaly and seizures. Diagnosis was confirmed by increased urinary excretion of L-2-hydroxyglutaric acid in all patients and highly specific magnetic resonance imaging (MRI) pattern showing subcortical leukoencephalopathy with bilateral high signal intensity in dentate nuclei and putamens. During the follow-up period, all patients had a static encephalopathy course. The underlying metabolic defect and the possible role of L-2-hydroxyglutaric acid are studied in a subgroup of these families and under evaluation for publication.

Mitochondrial cytopathies are a group of heterogeneous disorders characterized by multisystem involvement. Renal involvement in mitochondrial cytopathies is usually manifested as tubular dysfunction owing to impaired energy metabolism; however, a few cases with glomerular changes have also been reported. Herein we report the case of a 4-month-old Turkish girl with a mitochondrial DNA deletion and focal segmental glomerulosclerosis.

Neuronal ceroid lipofuscinosis (NCL) is one of the most common progressive neurodegenerative diseases seen in childhood. NCL is inherited as autosomal recessive trait, and is characterized by the accumulation of 'ceroid lipofuscin' in neuronal and extraneuronal cells. Clinical features include seizures, ataxia, myoclonus, loss of vision, and mental and motor deterioration. Although the disease is widely seen across the world, there seems to be an information gap in Asian countries. To date, no comprehensive and detailed studies on NCL have been carried out in Turkey. However, one could predict that the disease is rather frequent in Turkey due to high rates of consanguineous marriages. Thirty-six Turkish patients were evaluated in this study. Sixteen (44.5%) patients were girls, and 20 (55.5%) were boys. Parents were consanguineous in 25 families (80%). In five families (14%), the disease was seen in two sibs. The diagnosis was based on clinical evaluation, and neurophysiological, neuroradiologic, enzymatic, and histopathological studies. Electron microscopic study was the main diagnostic laboratory test. Three patients were classified as infantile NCL, 11 were late infantile NCL, 5 were juvenile type NCL and 17 patients were Turkish variant NCL. In juvenile type, major initial symptom was visual impairment, whereas in all other types seizures were predominantly the first symptom at the onset of the disease. The initial symptoms of Turkish variant NCL were similar to those of late infantile type. Similar age at clinical symptoms and the presence of visual symptoms were common features of Turkish variant and juvenile NCL. Compared to late infantile NCL, Turkish variant, showed a more severe course regarding seizures. Electroencephalogram (EEG) showed abnormal features predominantly in Turkish variant, and were remarkable for occipital spikes. In patients with Turkish variant magnetic resonance imaging of the brain showed brainstem involvement, especially pons, in all patients except one; cerebral and cerebellar atrophy were seen with a slower course compared to late infantile NCL. Clinical picture of NCL in advanced stages of the disease was similar regardless of the subtype.

Benign neonatal sleep myoclonus is a self-limited movement disorder characterized by neonatal-onset myoclonic jerks only during sleep, abrupt and consistent cessation with arousal, and absence of concomitant electrographic changes suggestive of seizures. It has a good outcome and was included in the differential diagnosis of neonatal seizures. A presumed transient serotonin imbalance and genetic factors may play a role in the pathogenesis of this disorder. We report a case of benign neonatal sleep myoclonus mimicking status epilepticus in an infant with a family history of nocturnal myoclonus, tic disorder, and sleep disturbance. We suggest that this benign entity should be included in the differential diagnosis of status epilepticus during the newborn period.

Twenty-two patients, followed with the diagnosis of epilepsy between the ages of 8.5 and 19 years who were found to have mesial temporal sclerosis (MTS) on brain magnetic resonance imaging (MRI) were evaluated according to their clinical, electrophysiological and neuropsychological characteristics, and assessed for the significance of neuropsychological tests on lateralization. In both MTS groups, a remarkable number of patients had their intial seizure before one year of age (45.5% in the right MTS group, and 36.4% in the left MTS group). Half of the patients were seizure-free for a period of two months-9.5 years (average 3.9 years). The duration between the febrile seizure and first non-febrile seizure was 6.2 years. Eleven patients had MTS on the left temporal lobe. Interictal EEG was normal in five (22.5%) patients; 10 (45.5%) had temporal spike on the corresponding side with MTS. Six (27.3%) patients had paroxysmal activity and voltage asymmetry on cortical areas other than temporal region. The Wechsler Memory Scale (WMS), Visual Reproduction Subtest and Auditory Verbal Learning Test (AVLT) Delayed Recall and Retrieval Subtest performances were poor in the right MTS group.

Subacute sclerosing panencephalitis is a chronic and fatal disease of the central nervous system. Most patients present with progressive psychointellectual disturbances. A 14-month-old girl was admitted to our hospital because of left-sided hemiparesis. During hospitalization, focal and generalized seizures occurred. The electroencephalogram (EEG) revealed that periodic lateralized discharges consisted of polyspike and high-voltage slow waves in the left hemisphere. The clinical and EEG findings and positive serology of measles in the cerebrospinal fluid were consistent with subacute sclerosing panencephalitis. In conclusion, we suggest that subacute sclerosing panencephalitis be considered in the differential diagnosis of focal neurologic signs in infants.