- Email: [email protected]
063 Familial sibling cases of atypical benign partial epilepsy of childhood and benign epilepsy of childhood with centrotemporal spikes
A47
Abstracts had positive cognitive effects: memory improvement in 11 children, better concentration and attention in 17, better school achievements in five, easier speech in six, lability of emotions decreased in 11, better self-esteem in six, decreased irritability and hyperactivity in 20, diminished drowsiness in five, and complete disappearance of sedative effect in four. Our results show that treatment of seizures with LTG not only is effective in seizure control, but also improves cognitive development of children and allows them to achieve better quality of life.
The primary group of nurses offers regular consultations based on each child’s special background. Based on age and mental functioning the child will take part in a children’s group. A flip-over named ‘the causes, penguin’ is used to guide them through symptoms, diagnoses and treatment of their epilepsy. This information material is also suitable for teaching the child at home.
327 New hope for CSWS/ESES treatment: 286 Rasmiissen’s encephalitis: thalidomide D SOTTO, P LANDRIEU, CHU
de Bic&re,
Effect of a treatment
with
Pe’diatrique,
Paris, France
389
programme
for children with epilepsy
I L SVENDSEN, B WMIEN CILHUUS National
Universite’ Catholique de Louvain Centre Neurologique William Lennox, Service de Neurope’diatrie et de Neurophysiologie Clinique, Ottignies, Belgium
M TARDIEU
Neurologie
Several treatments have been tested for Rasmussen’s encephalitis including surgery, high-dose immunoglobulin, corticoid, without a clear-cut effect. More recently, in view of the demonstration of anti-glutamate antireceptor antibody, plasmapheresis has been proposed. We report here a case of Rasmussen’s encephalitis in a 6year-old girl treated by plasmapheresis and thalidomide, a known anti-tumour necrosis factor (TNF) agent. The diagnosis of Rasmussen’s encephalitis was established when she was 5 years old in view of a refractory focal epilepsy, focal NMR lesion and continuous degradation of neurological status. Different combinations of antiepileptic drugs were ineffective. A first series of plasmapheresis performed every 3 weeks was initially beneficial but the disease subsequently relapsed without modification of NMR lesions. A treatment with thalidomide (4mg/kg/day) was initiated after 7 months of iterative plasmapheresis. Seizures stopped within 3 weeks. No other plasmapheresis was performed. After 4 months, the patient was able to resume school activities and anti-epileptic drugs were strongly diminished. Thalidomide, through its potential anti TNF effect, might be effective in Rasmussen’s encephalitis.
Information
Topiramate?
S SYMANN, M RUCQUOY, J P MISSON, C GILLAIN, C BONNIER, K van RIJCKEVORSEL
Centre for Epilepsy,
Sandvika,
Norway
This presentation proposes how to meet the need of children with epilepsy and their families for information and support. The National Centre for Epilepsy has for several years developed different information programmes based on enabling families to become more capable of handling their child’s epilepsy. During their stay in the children’s department the parents have the choice of taking part in lessons on various topics. These are among others, social rights, how to classify seizures, types of medical treatment and special educational needs. This programme rolls over every 3 weeks to reach all the parents during the hospital stay which normally lasts for 3-5 weeks.
Two boys, each 9 years old, suffered from an epileptic syndrome characterized by: 1) an early onset (2.5 and 6 years of age); 2) the occurrence of epileptic seizures with generalized spike-and-wave (SW) discharges on EEG; 3) cognitive deterioration with language regression and 4) behavioural problems. Sleep EEG recordings showed almost continuous ( > 85%) diffuse SW activity during slow sleep. The diagnosis of continuous SW during sleep (CSWS or ESES) was made. After several unsuccessful anti-epileptic treatments, alone or combined (valproate, lamotrigine, benzodiazepines, corticoids, etc.), topiramate (TPM) was tried. TPM was initiated at 25mg/day and then progressively increased until 150mg/day within 6 weeks. At the present time, one child is undertaking TPM monotherapy and concomitant anti-epileptic drugs were quite reduced in the other. After 1-2 months of TPM treatment, a dramatic improvement in sleep EEG was observed in both cases with the disappearance of the SW discharges. Cognitive and behavioural problems are clinically improved, but complete neurocognitive testings are ongoing. To our knowledge, this is the first report of the use of TPM in CSWS/ESES with some success. Some additional cases are needed and more prolonged followup is necessary to confirm this positive result.
063 Familial sibling cases of atypical benign partial epilepsy of childhood and benign epilepsy of childhood with centrotemporal spikes KIYOKO SUGITA,’ YOHKO TANAKA,’ KATSUO SUGITA’ ‘Department of Paediatrics, lchikawa General Hospital, Tokyo Dental College; 2Department of Clinical Medicine, Faculty of Education, University of Chiba, Japan
A 6$-year-old girl was referred for evaluation of hypnagogic spasms of the eyelids and perioral area. Interictal EEG revealed centroparietal dominant spikes during sleep. Her seizures at the face and upper extremities were not controlled completely by CBS or PA. At the age of 8 years, the frequency of the seizures increased and another type of seizure appeared: absence seizures, facial spasms secondarily generalized to generalized tonic-clonic seizures and atonic seizures.
A48
Abstracts
Interictal EEG revealed spikes dominantly at the centrotemporal area on awake and diffuse 2-3Hz sp/w complex during sleep. Her development has been normal. At this stage a diagnosis of atypical benign partial epilepsy in childhood was made and she was treated with valproate and carbamazepine. Family history showed that her elder brother suffered from benign partial epilepsy of childhood with centrotemporal spikes. From these familial cases, it is concluded that a case of atypical benign partial epilepsy in childhood does not belong to a single epileptic syndrome but merely represent a selection of the more benign cases of several distinct entities such as benign partial epilepsy of childhood with centrotemporal spikes.
229
Course of epilepsy in dysembrioplastic neuroectodermal tumour M TOPCU,’ G TURANLI,’ I SAATCI,’ E DEMIR,’ D CENC,’ F .S6YLEMEZOcLU3 8 HERGijNER,’ A ERDEM,4 N AKALIN,5 Y RENDA’ ’Hacettepe University Department of Child Neurology, ‘Radiology, 3Pathology; 4Ankara University Department Neurosurgery, ‘Hacettepe University Department of Neurosurgery, Turkey
of
Dysembrioplastic neuroectodermal tumour (DNET) is a rare, recently recognized neoplasm, characterized by a mixed glial-neuronal cell proliferation associated with chronic epilepsia and cortical dysplasia. It occurs in children and causes long-standing, intractable partial complex seizures. We describe four patients with DNET (aged 8, 14, 15, 16 years, respectively) who presented complex partial seizure of temporal lobe origin. Age of onset of seizure varied from 1 week to 14.5 years. On pedigree analysis, two patients were children of consanguineous parents. In three patients, localization of lesions were compatible with clinical and EEG features. However, one patient with DNET in the frontal lobe presented with temporal lobe seizure, suggesting spread of discharges from frontal lobe to temporal structure. Lack of contrast enhancement and the protuberant appearance of the lesion were suggestive of DNET in cranial MRI, confirmed by histopathological findings. Removal of lesions resulted in complete control of seizures in all patients. The duration between onset of seizures and surgical treatment did not have any effect on seizure control. Mean follow-up of 1.5 years showed complete remission of seizures.
220 Rasmiissen’s encephalitis: Neuroimaging findings and lymphocyte subsets analysis in two patients S TUTUNCUOGLU, N YUNTEN
H TEKGUL, Y ERSAHIN, F OKSEL,
Ege University Faculty of Medicine, Department iatrics, Division of Paediatric Neurology, Izmir,
of PaedTurkey
Rasmussen’s encephalitis, is a rare syndrome characterized by epilepsia partialis continua (EPC), progressive hemiparesis and cognitive decline. Early diagnosis and treatment with imrnunomodulatory agents and/or hemispherectomy are considered to prevent the progressive
cognitive deterioration. In this report two biopsy proven cases of Rasmussen’s encephalitis are presented. Highdose methylprednisolone (HDMP) plus intravenous immunoglobulin (IVIG) therapy were given to the patients. First patient (5.5 years of age, girl) with EPC showed a fulminant course of progressive hemiparesis and intellectual deterioration following treatment of steroid and IVIG. EPC did not respond to appropriate doses of the five anticonvulsant drugs. She underwent left hemispherectomy. Her partial seizures ceased immediately after operation. Second patient (10.5 years of age, girl) had a rather stationary course and partially responded to HDMP plus IVIG therapy which is repeated every 3 weeks. She was diagnosed with stereotactic brain biopsy. Her EPC were moderately controlled with four anticonvulsant drugs and HDMP plus IVIG therapy. Since her hemiparesis showed slight progression hemispherectomy was not applied. Before HDMP plus MG therapy, lymphocyte subsets analysis in peripheral blood were performed in both patients. Both had decreased CD19 (B cell) and CD4 (T helper cell)/CD8 (T supressor cell) ratio. Magnetic resonance spectroscopic images (MRIs) and single-photon emission computed tomography (SPECT) were also obtained from both patients. During the EPC, SPECT revealed hypoperfusion on the involved hemispheres. MRIs revealed decreased N-acetylaspartate to creatine index in involved cortex and white matter in the first patient.
222 A case of pseudohypoparathyroidism type la: Phenotypical features, epilepsy and EEG S YAPICI UCGUL,’ C CULAL,3 D KINAY,’ F DARENDELILER,’ A GOKYIGIT,’ M ERAKSOY’ ‘Department of Neurology, ‘Department of Paediatrics, 3Department of Neurology, Istanbul, Turkey
Division of Child Neurology; Istanbul Medical Faculty; Sisli Children’s Hospital,
Pseudohypoparathyroidism is characterized by clinical signs of hypoparathyroidism without a defect in the parathyroid hormone secretion. Besides clinical manifestations, diagnosis is made by the demonstration of decreased calcium and phosphorus, elevated parathyroid hormone and normal renal functions. In pseudohypoparathyroidism type la (Albright’s hereditary osteodystrophy), there is cyclic adenosine monophosphate (CAMP) defect during the action of parathyroid hormone and deficiency of the stimulatory G protein of adenylate cyclase. Phenotypical features include short forehead, short neck, obesity, a short stature, round face, short metacarpal and metatarsal bones (4th, 5th), and short and thick distal phalanges. A 14-year-old boy presented with a salutary generalized convulsion. History showed normal birth and neuromotor development. He experienced febrile convulsions four times when he was 1.5 to 3 years old. After the age of 6 years, he began to have numbness of the hands and difficulty in squatting. Neurological examination showed mild weakness of the lower proximal muscles, hypoactivity of the deep tendon reflexes, and positive Gowers’ sign. Tests employed yielded positive results both for Chvostek’s sign and Trousseau’s sign. Electromyographic analysis revealed myopathic changes.
Abstracts had positive cognitive effects: memory improvement in 11 children, better concentration and attention in 17, better school achievements in five, easier speech in six, lability of emotions decreased in 11, better self-esteem in six, decreased irritability and hyperactivity in 20, diminished drowsiness in five, and complete disappearance of sedative effect in four. Our results show that treatment of seizures with LTG not only is effective in seizure control, but also improves cognitive development of children and allows them to achieve better quality of life.
The primary group of nurses offers regular consultations based on each child’s special background. Based on age and mental functioning the child will take part in a children’s group. A flip-over named ‘the causes, penguin’ is used to guide them through symptoms, diagnoses and treatment of their epilepsy. This information material is also suitable for teaching the child at home.
327 New hope for CSWS/ESES treatment: 286 Rasmiissen’s encephalitis: thalidomide D SOTTO, P LANDRIEU, CHU
de Bic&re,
Effect of a treatment
with
Pe’diatrique,
Paris, France
389
programme
for children with epilepsy
I L SVENDSEN, B WMIEN CILHUUS National
Universite’ Catholique de Louvain Centre Neurologique William Lennox, Service de Neurope’diatrie et de Neurophysiologie Clinique, Ottignies, Belgium
M TARDIEU
Neurologie
Several treatments have been tested for Rasmussen’s encephalitis including surgery, high-dose immunoglobulin, corticoid, without a clear-cut effect. More recently, in view of the demonstration of anti-glutamate antireceptor antibody, plasmapheresis has been proposed. We report here a case of Rasmussen’s encephalitis in a 6year-old girl treated by plasmapheresis and thalidomide, a known anti-tumour necrosis factor (TNF) agent. The diagnosis of Rasmussen’s encephalitis was established when she was 5 years old in view of a refractory focal epilepsy, focal NMR lesion and continuous degradation of neurological status. Different combinations of antiepileptic drugs were ineffective. A first series of plasmapheresis performed every 3 weeks was initially beneficial but the disease subsequently relapsed without modification of NMR lesions. A treatment with thalidomide (4mg/kg/day) was initiated after 7 months of iterative plasmapheresis. Seizures stopped within 3 weeks. No other plasmapheresis was performed. After 4 months, the patient was able to resume school activities and anti-epileptic drugs were strongly diminished. Thalidomide, through its potential anti TNF effect, might be effective in Rasmussen’s encephalitis.
Information
Topiramate?
S SYMANN, M RUCQUOY, J P MISSON, C GILLAIN, C BONNIER, K van RIJCKEVORSEL
Centre for Epilepsy,
Sandvika,
Norway
This presentation proposes how to meet the need of children with epilepsy and their families for information and support. The National Centre for Epilepsy has for several years developed different information programmes based on enabling families to become more capable of handling their child’s epilepsy. During their stay in the children’s department the parents have the choice of taking part in lessons on various topics. These are among others, social rights, how to classify seizures, types of medical treatment and special educational needs. This programme rolls over every 3 weeks to reach all the parents during the hospital stay which normally lasts for 3-5 weeks.
Two boys, each 9 years old, suffered from an epileptic syndrome characterized by: 1) an early onset (2.5 and 6 years of age); 2) the occurrence of epileptic seizures with generalized spike-and-wave (SW) discharges on EEG; 3) cognitive deterioration with language regression and 4) behavioural problems. Sleep EEG recordings showed almost continuous ( > 85%) diffuse SW activity during slow sleep. The diagnosis of continuous SW during sleep (CSWS or ESES) was made. After several unsuccessful anti-epileptic treatments, alone or combined (valproate, lamotrigine, benzodiazepines, corticoids, etc.), topiramate (TPM) was tried. TPM was initiated at 25mg/day and then progressively increased until 150mg/day within 6 weeks. At the present time, one child is undertaking TPM monotherapy and concomitant anti-epileptic drugs were quite reduced in the other. After 1-2 months of TPM treatment, a dramatic improvement in sleep EEG was observed in both cases with the disappearance of the SW discharges. Cognitive and behavioural problems are clinically improved, but complete neurocognitive testings are ongoing. To our knowledge, this is the first report of the use of TPM in CSWS/ESES with some success. Some additional cases are needed and more prolonged followup is necessary to confirm this positive result.
063 Familial sibling cases of atypical benign partial epilepsy of childhood and benign epilepsy of childhood with centrotemporal spikes KIYOKO SUGITA,’ YOHKO TANAKA,’ KATSUO SUGITA’ ‘Department of Paediatrics, lchikawa General Hospital, Tokyo Dental College; 2Department of Clinical Medicine, Faculty of Education, University of Chiba, Japan
A 6$-year-old girl was referred for evaluation of hypnagogic spasms of the eyelids and perioral area. Interictal EEG revealed centroparietal dominant spikes during sleep. Her seizures at the face and upper extremities were not controlled completely by CBS or PA. At the age of 8 years, the frequency of the seizures increased and another type of seizure appeared: absence seizures, facial spasms secondarily generalized to generalized tonic-clonic seizures and atonic seizures.
A48
Abstracts
Interictal EEG revealed spikes dominantly at the centrotemporal area on awake and diffuse 2-3Hz sp/w complex during sleep. Her development has been normal. At this stage a diagnosis of atypical benign partial epilepsy in childhood was made and she was treated with valproate and carbamazepine. Family history showed that her elder brother suffered from benign partial epilepsy of childhood with centrotemporal spikes. From these familial cases, it is concluded that a case of atypical benign partial epilepsy in childhood does not belong to a single epileptic syndrome but merely represent a selection of the more benign cases of several distinct entities such as benign partial epilepsy of childhood with centrotemporal spikes.
229
Course of epilepsy in dysembrioplastic neuroectodermal tumour M TOPCU,’ G TURANLI,’ I SAATCI,’ E DEMIR,’ D CENC,’ F .S6YLEMEZOcLU3 8 HERGijNER,’ A ERDEM,4 N AKALIN,5 Y RENDA’ ’Hacettepe University Department of Child Neurology, ‘Radiology, 3Pathology; 4Ankara University Department Neurosurgery, ‘Hacettepe University Department of Neurosurgery, Turkey
of
Dysembrioplastic neuroectodermal tumour (DNET) is a rare, recently recognized neoplasm, characterized by a mixed glial-neuronal cell proliferation associated with chronic epilepsia and cortical dysplasia. It occurs in children and causes long-standing, intractable partial complex seizures. We describe four patients with DNET (aged 8, 14, 15, 16 years, respectively) who presented complex partial seizure of temporal lobe origin. Age of onset of seizure varied from 1 week to 14.5 years. On pedigree analysis, two patients were children of consanguineous parents. In three patients, localization of lesions were compatible with clinical and EEG features. However, one patient with DNET in the frontal lobe presented with temporal lobe seizure, suggesting spread of discharges from frontal lobe to temporal structure. Lack of contrast enhancement and the protuberant appearance of the lesion were suggestive of DNET in cranial MRI, confirmed by histopathological findings. Removal of lesions resulted in complete control of seizures in all patients. The duration between onset of seizures and surgical treatment did not have any effect on seizure control. Mean follow-up of 1.5 years showed complete remission of seizures.
220 Rasmiissen’s encephalitis: Neuroimaging findings and lymphocyte subsets analysis in two patients S TUTUNCUOGLU, N YUNTEN
H TEKGUL, Y ERSAHIN, F OKSEL,
Ege University Faculty of Medicine, Department iatrics, Division of Paediatric Neurology, Izmir,
of PaedTurkey
Rasmussen’s encephalitis, is a rare syndrome characterized by epilepsia partialis continua (EPC), progressive hemiparesis and cognitive decline. Early diagnosis and treatment with imrnunomodulatory agents and/or hemispherectomy are considered to prevent the progressive
cognitive deterioration. In this report two biopsy proven cases of Rasmussen’s encephalitis are presented. Highdose methylprednisolone (HDMP) plus intravenous immunoglobulin (IVIG) therapy were given to the patients. First patient (5.5 years of age, girl) with EPC showed a fulminant course of progressive hemiparesis and intellectual deterioration following treatment of steroid and IVIG. EPC did not respond to appropriate doses of the five anticonvulsant drugs. She underwent left hemispherectomy. Her partial seizures ceased immediately after operation. Second patient (10.5 years of age, girl) had a rather stationary course and partially responded to HDMP plus IVIG therapy which is repeated every 3 weeks. She was diagnosed with stereotactic brain biopsy. Her EPC were moderately controlled with four anticonvulsant drugs and HDMP plus IVIG therapy. Since her hemiparesis showed slight progression hemispherectomy was not applied. Before HDMP plus MG therapy, lymphocyte subsets analysis in peripheral blood were performed in both patients. Both had decreased CD19 (B cell) and CD4 (T helper cell)/CD8 (T supressor cell) ratio. Magnetic resonance spectroscopic images (MRIs) and single-photon emission computed tomography (SPECT) were also obtained from both patients. During the EPC, SPECT revealed hypoperfusion on the involved hemispheres. MRIs revealed decreased N-acetylaspartate to creatine index in involved cortex and white matter in the first patient.
222 A case of pseudohypoparathyroidism type la: Phenotypical features, epilepsy and EEG S YAPICI UCGUL,’ C CULAL,3 D KINAY,’ F DARENDELILER,’ A GOKYIGIT,’ M ERAKSOY’ ‘Department of Neurology, ‘Department of Paediatrics, 3Department of Neurology, Istanbul, Turkey
Division of Child Neurology; Istanbul Medical Faculty; Sisli Children’s Hospital,
Pseudohypoparathyroidism is characterized by clinical signs of hypoparathyroidism without a defect in the parathyroid hormone secretion. Besides clinical manifestations, diagnosis is made by the demonstration of decreased calcium and phosphorus, elevated parathyroid hormone and normal renal functions. In pseudohypoparathyroidism type la (Albright’s hereditary osteodystrophy), there is cyclic adenosine monophosphate (CAMP) defect during the action of parathyroid hormone and deficiency of the stimulatory G protein of adenylate cyclase. Phenotypical features include short forehead, short neck, obesity, a short stature, round face, short metacarpal and metatarsal bones (4th, 5th), and short and thick distal phalanges. A 14-year-old boy presented with a salutary generalized convulsion. History showed normal birth and neuromotor development. He experienced febrile convulsions four times when he was 1.5 to 3 years old. After the age of 6 years, he began to have numbness of the hands and difficulty in squatting. Neurological examination showed mild weakness of the lower proximal muscles, hypoactivity of the deep tendon reflexes, and positive Gowers’ sign. Tests employed yielded positive results both for Chvostek’s sign and Trousseau’s sign. Electromyographic analysis revealed myopathic changes.