Clinical Neuroscience

[Devastating epileptic encephalopathypseudoencephalitis: the new type of catastrophe epilepsy in our department]

NEUWIRTH Magdolna, PARAICZ Éva, LIPTAI Zoltán

DECEMBER 20, 2008

Clinical Neuroscience - 2008;61(11-12)

[Purpose - Analysis of history of our five patients with intractable epilepsy whose illnes have begun with prolonged status epilepticus (SE) and high-grad fever of unknow cause. Methods - Retrospective study analysis of selected five intractable epileptic patients at a median age of 11.5 (8-14) years. Results - All children had normal development before epilepsy begun. Intractable SE lasted 3-10 (median seven) days by four patients and three months by one patient. The cause of illness was unknow at the beginning and the MRI were normal. Intractable epilepsy followed the SE in all cases without any latent period. Follow-up of the children was 3-15 (median 9.5) years. The seizures came continually with few-day-long breaks, antiepileptic drugs were ineffective. Semiology of seizures, EEG, and functional imaging examinations (PET, SPECT) referred to temporal and frontal lobe damages. Later on, the MR images showed hippocampal sclerosis in one patient and mild generalized brain atrophy in the others. During the years, cognitive deterioration and behavioral problems have been realized. The most severe patient developed tetraparesis, fell in vigil coma and died after five years. Conclusions - The symptoms of our patients fulfilled the criteria of devastating epileptic encephalopathy in schoolaged children.]

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Clinical Neuroscience

[Screening of hereditary neuromuscular disorders in the roma population living in Hungary]

HERCZEGFALVI Ágnes, PIKÓ Henriett, KARCAGI Veronika

[Recent medical genetic research has identified a number of novel, or previously known, but rare conditions, caused by private founder mutations. The Finnish and Ashkenazi Jew populations provide the best examples for identifying genes in unique genetic disorders. In these populations, research efforts and high-level medical services resulted in intense improvements of medical care and in organization of population- based screening programs. Hereditary disorders of the Roma populations are known for a long time. The genetic background of these diseases has been established by extensive molecular genetic studies. The Romas represent 6% of the Hungarian population and live under extremely bad health conditions. Therefore, our aim was to map the incidence of the hereditary neuromuscular disorders among the Hungarian Roma population. Moreover, we intended to provide proper information, genetic counseling and possible prevention strategies for the families at risk, which should represent a primer task in public health. Because of our experience in neuromuscular disorders, we choose six, frequent, autosomal recessive disorders for these clinical and genetic studies: hereditary motor and sensory neuropathy type Lom (HMSNL), hereditary motor and sensory neuropathy type Russe (HMSNR), congenital cataracts facial dysmorphism syndrome (CCFDN), Limb- Girdle muscular dystrophy 2C (LGMD2C), congenital myasthenic syndrome (CMS) and spinal muscular atrophy (SMA). Following identification of the founder mutations, the possibility of prenatal diagnosis and carrier screening for family members will contribute to the decrease of the recurrence risk for these severe, mostly untreatable disorders.]

Clinical Neuroscience

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PÁLI Anikó Andrea, PÁSZTHY Bea

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Clinical Neuroscience

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Clinical Neuroscience

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[Although Landau-Kleffner syndrome, a childhood-acquired epileptic aphasia, is frequently studied either the underlying pathophisiology or the optimal therapy remained unknown. In our study we aimed to investigate the efficacy of ACTH therapy in Landau-Kleffner syndrome. We have analysed retrospectively the documentation of five children treated by ACTH, who suffered from Landau-Kleffner syndrome. We studied the longitudinal changes of the four most characteristic sympthoms and signs of the syndrome: epileptiform EEG, speech and behaviour disorders, seizures together with the ACTH regimes. Besides, we analysed the relation between the starting date of the therapy and its efficacy. Before giving ACTH, epileptiform EEG and speech disorders were observed in all the five children, seizures in four of them, behaviour disorders in three of them. In two patients the speech disorder had been persisting for years before. Due to the starting ACTH stosstherapy (20 E/day for onetwo weeks) all the four examined signs disappeared or showed quick softening in all the five children in maximum two weeks. We adjusted long-term low dose maintenance therapy to avoid relapses in the long-term follow-up. Epileptiform EEGs have normalised in one case and have decreased in four cases. Speech disorders have disappeared in two and have softened in three children. Behaviour disorders have cured in 3/4 cases, softened in one case. Seizures have disappeared in all cases. One child is totally asymptomatic, four of them lives with softened symptoms. Analysing our data we found that the earlier the therapy starts, the more effective it is. On the basis of our data ACTH is an effective treatment for Landau-Kleffner syndrome. After giving it for only a short period, relapses often occur, to avoid relapses adjustment of long term low dose maintenance therapy is advisable.]

Clinical Neuroscience

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Clinical Neuroscience

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Clinical Neuroscience

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Clinical Neuroscience

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