Search

Over the past year, many cases with newly onset or significantly exacerbated tic disorders were observed worldwide, where some aspects of the clinical presentation or the symptomatology were atypical for established tic diagnoses. Our purpose was to describe the atypical cases and raise relevant diagnostic issues. Consecutive cases with atypical tic presentations were documented. Five atypical tic cases are described. These cases shared some common characteristics, most notably the fact that all of them had been exposed to online presentation of ticking behaviour on social media platforms prior to the de novo development or exacerbation of their tics. Even though the order of events suggests causality and therefore the diagnosis of a functional tic disorder, unambiguous criteria for classifying atypical tics as functional symptoms are lacking. Differentiating neurodevelopmental and functional tics in childhood is currently problematic. Based on the currently unresolved issues in differential diagnosis, the importance of watchful waiting and behavioural interventions is highlighted to avoid unwarranted pharmacotherapy.

OBJECTIVES A retrospective study has been done at the Bethesda Children's Hospital Epilepsy Center with those patients whose EEG records fulfilled in one or more records the criteria of electrical status epilepticus in slow wave sleep (ESES) pattern, occupying at least 75% of NREM sleep with bilateral discharges, and had detailed disease history and long term follow-up data, between 2000 and 2012. PATIENTS AND METHODS--Thirty-three patients (mean 11.1 +/- 4.2 years of age) were studied by 171 sleep EEG records. Sleep was recorded after sleep deprivation or during spontaneous sleep at least for one hour length of NREM. From the 492 EEGs, 171 sleep records were performed (average five/patient). Average follow-up time was 7.5 years. Eighty-two ESES records have been analyzed in 15 non-lesional and 18 lesional (11 with dysgenetic and seven with perinatal-asphyxic or vascular origin) patients. Variability of seizure types, seizure frequency and frequency of status epilepticus was higher in the lesional group. Impairment of the cognitive functions was moderate and partial in the non-lesional, while severely damaged in the lesional group. RESULTS EEG records of 29 patients shawed unihemispherial spike fields with a perpendicular axis (in anterior, medial and posterior variants) to the Sylvian fissure, regardless their lesional or non-lesional origin. Only three (lone nonlesional and two lesional) patients had bilateral synchronous spike-wave discharges with bilateral symmetric frontocentral spike fields. The individual discharges of the sleep EEG pattern were very similar to the awake interictal records except their extension in time and field, their increased number, amplitude, and continuity of them and furthermore in the increased trans-hemispheral propagation and their synchronity. CONCLUSIONS Assumed circuits involved in the pathomechanism of discharges during NREM sleep in ESES are discussed based on our findings.

The only Hungarian video EEG laboratory where children of ages 0-18 can be continuously monitored for several days was opened 1 June 2001 at Department of Neurology of Bethesda Children's Hospital.Summarizing our 10 years of experience with the video EEG monitoring (VEM) of children and defining the place of VEM in the treatment of childhood epilepsy in Hungary.We have processed data from 597 monitoring sessions on 541 patients between June 1, 2001 and 31 May, 2011 based on our database and the detailed summaries of the procedures.509 patients were under the age of 18. The average length of the sessions was 3.1 days. We have observed habitual episodes or episodes in question in 477 (80%) sessions. 241 (40%) sessions were requested with an epilepsy surgery indication, and 74 patients had 84 operations. 356 (60%) were requested with a differential diagnosis indication, and 191 (53%) cases of epilepsy were diagnosed. We most commonly diagnosed symptomatic generalized epilepsy (57 cases). In 165 sessions the episode in question was not diagnosed as epilepsy. Among the paroxysmal episodes we have identified events of psychogenic origin, movement disorders, sleep disorders and behavioral disorders. Only 3% of the differential diagnosis procedures brought no additional clinical information.The diagnostic efficiency in our VEM laboratory is in accordance with the data found in the literature. Besides epilepsy surgery VEM is recommended if suspected epileptic episodes occur and interictal epileptiform signs are not present or are not in accordance with the symptoms, if there is no explanation for therapy resistance and if paroxysmal episodes of non-epileptic origin are suspected but they cannot be identified based on the anamnesis. VEM is also helpful in diagnosing subtle seizures. The procedure has numerous additional benefits in patient care and in training the parents and hospital staff.

Severe myoclonic epilepsy in infancy (SMEI; Dravet's syndrome) is a malignant epilepsy syndrome characterized by prolonged febrile hemiconvulsions or generalized seizures starting in the first year of life. Later on myoclonic, atypical absence, and complex partial seizures appear. When one of these seizure forms is lacking the syndrome of borderline SMEI (SMEB) is defined. Psychomotor delay resulting in mental retardation is observed during the second year of life. In most patients a de novo sodium channel alpha-1 subunit (SCN1A) mutation can be identified. By reviewing the clinical, laboratory, and neuroimaging data of our SMEI patients diagnosed between 2000 and 2008, we would like to share our experiences in this rare but challenging syndrome. Our results will facilitate the earlier and better diagnosis of Hungarian children with SMEI.Clinical, EEG, MRI and DNA mutation data of 20 SMEI patients treated in the Bethesda Children's Hospital (Budapest) were reviewed.The first seizure appeared at age 6.3+/-3.0 months. At least one of the first two seizures were complex febrile seizures in 19/20 and unilateral seizures in 12/20 children. All children except for one showed hemiconvulsions at least once; all children had seizures lasting longer than 15 minutes. Eight of twenty patients had SMEB. DNA diagnostics identified an SCN1A mutation in 17 patients (6 missense, 4 nonsense, 4 frameshift, 2 splice site, 1 deletion) while 3 children had no mutation.Early diagnosis of SMEI is important for the avoiding unnecessary examinations and false therapies as well as for genetic counselling. Typical symptoms of SMEI are early and prolonged febrile hemiconvulsions with neurological symptoms, mental retardation and secondary seizure types later on. The presence of an SCN1A mutation supports the diagnosis. We propose the availability of molecular diagnostics and stiripentol therapy for SMEI children in Hungary

To evaluate the efficacy and tolerability of levetiracetam in children with drug resistant epilepsy from a retrospective study.We report the result of a study of 85 pediatric patients (mean 10.5 years, range: 1-24) with refractory generalized and focal epilepsy, who received levetiracetam as add-on treatment. The average duration of epilepsy was eight years, and the patient were treated with mean of 6.0 antiepileptic drugs before levetiracetam was introduced.Ten patients (12%) became seizure-free, three (3%) responded with seizure reduction of more than 90%, 32 (38%) responded with seizure reduction of more than 50% following introduction of levetiracetam. No response to levetiracetam was reported in 34% (n: 29). Positive psychotropic effect was observed in 26 patient (30%). Mild to moderate side effects were reported in 11 patients (13%), consisting most frequently general behavioral changes, aggression, sleep disturbances, but they ceased after decreasing the dose of levetiracetam. Mental retardation was associated with poor response and associated with more side effects.Levetiracetam is a well tolerated new antiepileptic drug that may effectively improve seizures control as an add-on drug in resistant epilepsy in childhood with good tolerability.