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A 6-year-old boy with normal development experienced tonic-clonic seizures and myoclonus. His electroencephalogram showed epileptic discharge and he was administered antiepileptic drugs ; however, they were ineffective. Antiepileptic drugs were discontinued temporarily because of no ictal recordings. He could not walk unaided and his speech reduced gradually. He was admitted to our hospital at the age of seven years and eight months. He experienced daily tonic-clonic seizures and myoclonus. Epileptic encephalopathy related to autoimmunity was suspected as he had psychomotor regression and his cerebrospinal and serum anti-glutamate receptor antibody (anti-GluR) levels were elevated. After being administered immunoglobulins, his motor and cognitive functions improved and his seizures almost stopped. After one year, he could walk unaided and speak fluently. We strongly suspect an autoimmune reaction to be the pathological cause because of the effectiveness of immunoglobulin treatment. Immunoglobulin interventions should be considered in patients with unknown-cause, sub-acute onset, and destructively progressive epileptic encephalopathy.

We report the cases of 2 girls, aged 13 and 15 years, who experienced exacerbation of migraine at 2-3 years after its onset. The chronic headaches were refractory to various anti-migraine and analgesic agents, persisted for 3-6 months in each patient, and rendered them unable to attend school. These headaches commonly manifested with symptoms of orthostatic dysregulation and paroxysmal back/limb pain. In addition, T2-weighted magnetic resonance images showed dots of highly intense signals in the bilateral cerebral white matter. Neurotropin, a non-protein extract isolated from the dermis of rabbits and inoculated with the vaccinia virus, induced prompt significant effects on the headache and back/limbs pain in both the girls. The symptom of orthostatic dysregulation was also gradually ameliorated after the resolution of the headache. Neurotropin has an analgesic action that is not common to other drugs since it enhances the descending pain inhibitory systems, and its effect has been reported in cases of post-herpetic and other neuralgia as well as in cases of primary headaches in adulthood. This agent may also be promising for the treatment of intractable primary headaches during childhood.

We reported 19 cases of school-aged children. They were initially judged to have learning difficulty or school maladaptation because of attention deficits, hyperactive behaviors or poor school performance, followed by the diagnosis such as degenerative or metabolic neurological diseases. The patients consisted of 4 cases of adrenoleukodystrophy, 5 cases of dentatorubral-pallidoluysian atrophy, 3 cases of Sanfilippo syndrome, 3 cases of subacute sclerosing panencephalitis, and each one case of juvenile Gaucher disease, juvenile Huntington disease, juvenile metachromatic leukodystrophy and Leigh disease. They had markedly poor school performance, and/or abnormal behaviors, followed by seizures, character disorders or psychomotor regression. The diagnostic clues included brain CT scan and/or MRI, peculiar facial appearance and notable family histories. When the children were indicated to have learning difficulty or maladjustment to school life, we should make deliberate differential diagnoses before concluding that they have a learning disorder and/or attention-deficit/hyperactivity disorder. Instead they should be recommended to visit child neurologists, when they present with any problems as aforesaid.

A newborn baby boy presented with giant melanocytic nevi on the face, trunk and extremities, and focal cortical dysplasia on MRI. At 3 months of age, he developed intractable epilepsy, and MRI at 2 years of age revealed a high-intensity area in the bilateral cerebellum on T1-weighted images, indicative of melanosis. Based on the findings of the skin and MRI, we diagnosed the boy with neurocutaneous melanosis. Cytodiagnosis of cerebrospinal fluid showed no malignancies. EEG, magnetoencephalogram and ECD-SPECT indicated that the clonic seizures originated from a focus in the right focal cortical dysplasia. Complications also included sebaceous nevus of the head and face, which was characteristic of sebaceous nevus syndrome, lipoma of the face and cauda equina, and limbal dermoid. Sebaceous nevus syndrome may have been due to certain allelic defects that were independent of those for neurocutaneous melanosis.

A 16-year-old male patient was admitted to our hospital with mental retardation and a gradually increasing gait disturbance. He fell easily at age 6, and lost the ability to jump at age 12. At age 13, he lost the ability to run, and developed pes cavus and hammer toes. Spastic paraplegia with mental retardation, congenital cataracts, hyper reflexia, dysarthria, callosal hypogenesis and peripheral neuropathy were evident at age 16. Laboratory examinations did not reveal any underlying disorders. He was diagnosed as having complex spastic paraplegia with cataracts, mental retardation and peripheral neuropathy that might comprise a genetically distinct entity that is unique to Japan, because all prior reports of this combination have been generated only from Japan.

We examined the evoked potentials in 2 patients, a 6-month-old girl and a 3-year-old boy, with congenital insensitivity to pain with anhidrosis (CIPA). While auditory brainstem response (ABR) in both patients showed normal latencies, flash visual evoked potential (FVEP) revealed delayed latency of wave IV (P100), and short latency somatosensory evoked potential (SSEP) demonstrated marked prolongation of the central conduction time (CCT; N13-N20 interval). The boy had West syndrome and his prolonged CCT might have been influenced by abnormal cortical activities. The girl did not have epilepsy and the abnormalities of her F-VEP and SSEP might have been caused by the developmental deficit of the central nervous system associated with the pathogenesis of CIPA.

We treated three patients with subacute sclerosing panencephalitis with intraventricular interferon-alpha and oral inosiplex, and followed their clinical courses. One patient was also treated with ribavirin. Results were unsatisfactory; no significant clinical improvement was seen in the patients, and a number of serious complications occurred. Malfunction of the Ommaya reservoir, septic meningitis and chemical encephalopathy were observed in the three patients, respectively. The use of intraventricular interferon-alpha and ribavirin therapy has been increasing despite insufficient evidence of its efficacy. A high risk of serious side effects exists with this therapy. Thus it is important to consider not only the effects but also the side effects and complications as described above. We also propose that a standard protocol for the use of interferon-alpha and ribavirin and the cessation of current therapy is necessary.

We describe three cases of temporal lobe epilepsy in infancy presenting as repeated apneic attacks. In all cases, ictal electroencephalogram (EEG) showed unilateral focal high-voltage slow waves over the temporal or frontal areas. In two of the three cases, the epilepsy was due to mesial temporal tumors, and the apneic attacks disappeared following the removal of the tumor. Pathological examination identified ganglioglioma in both cases. In the remaining case, no focal lesions were found despite ictal EEG evidence of focal temporal abnormalities. Although intractable to several anti-convulsants, the addition of acetazolamide was dramatically effective in ceasing the apneic attacks. When assessing infants with apneic attacks, although causes such as obstructive apnea and gastroesophageal reflux need to be excluded, a diagnosis of epilepsy also needs to be considered as an important cause of apparent life-threatening events (ALTE). We would recommend EEG with video monitoring during apneic attacks in such cases.

Tracheoinnominate artery fistula is a well-known complication that arises on using a cannula. Therefore, routine examination of the anatomical relationship of the innominate artery and trachea should be carried out. We evaluated the usefulness of magnetic resonance imaging in 5 patients with severe motor and intellectual disabilities (SMID) using a combination of true-fast imaging of steady-state precession (true-FISP) sequences and two-dimensional prospective acquisition correction (2D-PACE). For all patients, the trachea and the innominate artery were identified without sedation and contrast media. In one patient, the innominate artery was observed to be pressing on the trachea. In three patients, the trachea and innominate artery were brought very close each other, and in the other patient the anatomical relationship of the trachea and surrounding structure was delineated before tracheotomy. The validity of true-FISP sequences combined with the respiratory-gated technique was confirmed useful for the patients who are difficult to lie quietly and to hold their breath voluntarily.

We describe a patient with 22q13 deletion syndrome accompanied by epilepsy with continuous spike-waves during slow wave sleep (CSWS). This patient showed central hypotonia, mental retardation, disappearance of language, multiple facial anomalies, and intractable epilepsy. Overnight EEG showed CSWS (spike & wave index = 99.2%) at seven years of age. Chromosomal analysis using G-banding revealed a deletion at the end of chromosome 22, indicative of 22q13 syndrome. In addition, subsequent magnetic resonance imaging (MRI) demonstrated cerebral infarction in the left posterior temporal area, which was probably caused by recurrent status epilepticus. Unlike previous case reports, a striking feature in this patient was the development of motor deterioration after 15 years of age. The severe EEG abnormalities and frequent status epilepticus might induce this deterioration and brain infarction.

A fever of unknown origin developed in a patient with sequelae of acute encephalopathy who had received dantrolene for severe spasticity. A chronic subdural hematoma was found on MRI, and initially it was suspected that the patient had an intracranial infection. However, close investigation ruled out the chronic subdural hematoma as the source of infection. The patient's fever continued in spite of administration of antibiotics and antimycotics. We suspected that the fever was drug-induced and discontinued the use of dantrolene. As a result, the patient's fever promptly went down. After discontinuation of dantrolene the patient experienced increased muscle tone, vomiting and sleep disturbances. Dantrolene was readministered with the consent of the patient's family, but the fever returned. When dantrolene was once again discontinued, the fever immediately went down. We concluded that the fever of the patient was induced by dantrolene.

We report a case of a male infant with refractory epilepsy, demonstrating hemimegalencephaly with slowly progressive expansion. The patient experienced his first seizure at 4 months of age. Subsequently, tonic seizures occurred very frequently despite extensive antiepileptic medications, and his development deteriorated. Cranial magnetic resonance imaging (MRI) at 4 months of age showed focal cortical dysplasia in the right opercular area. This focal lesion gradually expanded, and became thickened. Five years later, the dysplastic lesion occupied most of the right cerebral hemisphere and the volume of the right hemisphere increased, indicating hemimegalencephaly. He had profound motor and intellectual retardation. In the abnormal cerebral hemisphere, fluorodeoxyglucose-positron emission tomography (FDG-PET) showed marked hypometabolism, and ictal single photon emission computed tomography (SPECT) showed hyperperfusion, more pronounced in the right frontal area. These findings are consistent with a hemimegalencephaly. Hemimegalencephaly with such a progressive expansion has never been described previously. These findings are consistent with a hemimegalencephaly showing progressive expansion, which has never been described previously.

Möbius syndrome is a rare disorder characterized by congenital bilateral facial nerve palsy. Abducent palsy or other cranial nerve palsy, facial malformations, limb malformations, and skeletal malformations are common features associated with this syndrome. We report a 9-month-old infant in whom congenital muscular disorder was previously suspected because of facial muscle involvement (mask-like face), respiratory and swallowing disturbances, and hypotonia since birth. After an improvement in the respiratory infection, she showed slightly exaggerated deep tendon reflexes and an improvement in muscle tone. The occurrence of combined facial nerve palsy, glossopharyngeal nerve palsy, vagus nerve palsy, and hypoglossal nerve palsy strongly suggested that she had Möbius syndrome. Finally, the absence of the roots of bilateral facial nerves on an MRI confirmed that the disorder was Möbius syndrome. We propose that a thin slice MRI should be obtained to observe the cranial nerves around the brain stem if patients show symptoms of congenital myopathy or congenital myotonic dystrophy as well as facial nerve and other cranial nerve paralyses.

We report here two boys who presented with atrophy of the right calf muscle. The onset was insidious and the symptom was found in infancy in case 2. They were followed for more than 5 years and no progression was seen. No sensory disturbances or autonomic nervous system symptoms were observed. Although needle electric myograph and muscle biopsy findings showed a neurogenic pattern, no cause was confirmed. Recently, a new disease concept of "benign monomelic amyotrophy of lower limb" was established and this could be applied to these patients. This disorder is rare and it is seen in young adults. It is characterized by non-progressive unilateral calf muscle atrophy. There is almost no possibility that this disorder is a variant of spinal muscular atrophy. When a patient presents with unilateral calf muscle atrophy, the treatable causes of the atrophy, including spinal cord disorders or peripheral nerve disorders, should be excluded first. If a confirmed cause cannot be found, then there should be a careful follow-up of the patient, even if the symptoms are stable.

Here we report a 12-year-old boy with idiopathic neuralgic amyotrophy who had two episodes of shoulder pain followed by shoulder muscle atrophy and weakness at the age of 7 and 11 years, respectively. These symptoms were self-limited and disappeared within 9 months. During the second episode, electromyograph (EMG) revealed neurogenic changes in the deltoid muscle. Muscle imaging showed the right deltoid muscle atrophy with slightly high intensity areas on T1 and T2 weighted images in MRI. Muscle biopsy from the right deltoid muscle revealed neurogenic changes with denervating and reinnervating processes. Neuralgic amyotrophy is characterized by neuralgic pain followed by weakness and atrophy at a unilateral extremity and is usually self-limited. EMG and imaging studies showed focal neurogenic abnormalities, which were confirmed by muscle biopsy. Neuralgic amyotrophy usually occurs in young adults and it is very rare in children.

Chronic unilateral pleural effusion developed in three patients with severe motor and intellectual disabilities. All patients received 5-15 years of dantrolene administration for their spasticity. The cause of pleural effusion was indistinct, despite close investigations for etiologies such as infection or tumor. The pleural fluid consisted of sterile exudate in all patients. One patient had eosinophilia in his pleural fluid, while peripheral blood eosinophilia was seen in the other two. The pleural biopsy and autopsy specimens revealed only non-specific inflammatory findings. After dantrolene therapy was discontinued, pleural effusion almost disappeared in two patients in the following several months, but the other died of multi-organ failure from another underlying disease. It is important to take chemical pleurisy into consideration when dealing with pleural effusion of unknown etiology. Moreover, respiratory side effect should be examined in patients treated with chronic dantrolene administration.

We made a 3-dimensional, 99mTc-ECD brain perfusion single photon emission computed tomography (SPECT) database in children by a statistical analysis. We selected 52 individuals between 1 and 15 years of age whose brain SPECT and brain MRI findings were normal, and divided them into three age groups: 1-5, 6-10 and 11-15 years. By comparing databases obtained for each group, an age-dependent change of regional cerebral blood flow was investigated. The results showed that the relative blood flow increases in the frontal lobe and cerebeller hemisphere and decrease in the occipital lobe with increasing age, findings consistent with those of previous reports. This database enabled us to easily find 3-dimensional brain perfusion abnormality in individual patient by SPECT, and may help elucidate the pathophysiology of many brain disorders.

We examined efficacy of continuous midazolam (MDL) infusion in seven episodes of refractory nonconvulsive status epilepticus (NCSE) in five children. Diagnosis included Lennox-Gastaut syndrome (two cases), and symptomatic generalized epilepsy, ring chromosome 20 syndrome, and epilepsy with continuous spike-waves during slow-wave sleep (one case each). One patient with Lennox-Gastaut syndrome and another with ring chromosome 20 syndrome had two episodes of NCSE. MDL was given as an initial bolus of 0.15 to 0.3 mg/kg, followed by continuous intravenous infusion at 0.1 to 0.2 mg/kg/hr. The infusion rate was increased slowly by 0.1 mg/kg/hr every 0.5 to 1.0 hr, up to 0.4 mg/kg/hr or until NCSE was controlled. The electroencephalogram, vital signs, blood pressure, and oxygen saturation were monitored during therapy. Electrical status epilepticus was abolished within a few hours in five of the seven episodes, and two patients could maintain wakefulness, oral intake, and bowel and bladder control throughout the continuous infusion. In one patient in whom NCSE recurred, it then remained uncontrolled even at a maximum dose. Serious complications such as respiratory depression or hypotension were not observed. Continuous intravenous infusion of MDL was effective and safe for NCSE in children, and can be used as firstline therapy for this condition.

We studied serial median nerve somatosensory evoked potentials (SEPs) and short latency somatosensory evoked potentials (SSEPs) in 17 patients with West syndrome. Four of the 7 patients with absent SEPs in the initial examination showed recognizable SEPs in the follow-up studies, associated with improvement of electroencephalogram (EEG). This indicated that SEPs were variable with condition of epilepsy and lack of initial SEPs was not always a poor prognostic factor for seizure control and developmental outcome. Persistent lack of SEPs, however, indicated poor outcome of seizures, EEG and development. Central conduction time in SSEPs did not correlate with seizure or developmental outcome.

We report here a 6-year-old boy with narcolepsy. The diagnostic criteria were met by the clinical symptoms including excessive daytime sleepiness and cataplexy, and by the results of overnight polysomnography (PSG), multiple sleep latency test (MSLT), and human leukocyte antigen (HLA). PSG showed increased ratio of sleep stages 1 and 2 due to frequent awakening. All the five test session of MSLT showed a sleep onset REM period. HLA typing was positive for DRB1* 1501 and DQB1* 0602. Though the present case had very early onset, all the clinical symptoms and results of sleep studies met the criteria of narcolepsy. The CSF orexin level was far below the lower limit of the control values. It is very useful to measure CSF orexin for the diagnosis of early onset narcolepsy.

Benign myoclonus of early infancy (BMEI) is a non-epileptic paroxysmal phenomenon. Some patients with BMEI were mistakenly treated as infantile spasms, because the fits resemble to tonic spasms in infantile spasms and they occur in cluster. However, the patients have normal development and no abnormal electroencephalograms (EEG), and the fits spontaneously subside without sequelae. There are only a few reports on BMEI, and it is not widely recognized in Japan. We report three cases of BMEI. All the cases were suspected to have infantile spasms from the characteristic features of paroxysmal events, and the parents had strong anxiety because of recurrent fits. However, the fits decreased dramatically in about three months, and spontaneously disappeared within one year without any sequelae. BMEI might be included in cases of suspected infantile spasms, and such patients should be followed by monthly EEG examinations and close observation for other seizure phenomena. To avoid unnecessary treatments, such patients should be observed without any therapeutic trials including antiepileptic drugs.

Parents' of patients with pediatric neurological disorders were sent a questionnaire, on their assessment and needs for home mechanical ventilation (HMV). Nine of 12 enrolled families responded. Respirator troubles were handled by a contracted HMV company. Decreased SpO2 levels and endotracheal bleeding were cared by family members under telephone instructions of doctors, though they felt anxious about dealing the problems. The mothers felt happy to live with their children by virtue of HMV, however, they had strong stress about the management of emergency care and medical care technique. They also felt very tired physically, but refreshed by being free from daily HMV care for a short time and enjoying their own time. The parents were not satisfied with the present house facilities and education system. They evaluated the induction of HMV positively but were most anxious for a better home care nursing system, doctors responding to a house call, more information on HMV, reduction of their anxieties and fatigue, and improvement of economical and educational environments.

We present the effects and adverse effects of dichloroacetate (DCA) in a girl with mitochondrial disorder. Oral administration of DCA 50 mg/kg per day, reduced the elevated levels of lactate to below the normal range. Treatment with DCA ameliorated electroencephalogram abnormalities, but caused the adverse effects with hepatomegaly and decreased activity, which were improved by reduction or withdrawal of DCA. The decreased activity may be an adverse effect on the central nervous system. The dosage of DCA should be adjusted for each patient.

Three patients with severe motor and intellectual disabilities presented deterioration of the activities of daily living, which was revealed to be caused by prolonged non-convulsive status epilepticus (NCSE). Their condition improved by the treatment with antiepileptics. Case 1, a 4-year-old girl with profound psychomotor retardation and past history of West syndrome of unknown etiology, became unable to sit and eat orally above age of two years. EEG showed continuous generalized slow spike and wave bursts indicating NCSE. Continuous intravenous infusion of midazolam abolished EEG abnormalities of NCSE, and she regained the ability of oral feeding. Case 2, a 3-year-old boy with Angelman syndrome and past history of West syndrome, presented decreased mental response, poor oral intake and somnolence. EEG showed continuous slow spike and wave bursts, indicating NCSE. High-dose phenobarbital therapy and continuous intravenous injection of vitamin B6 were effective, and remarkably improved his psychomotor activities. Case 3, a 3-year-old boy with Lennox-Gastaut syndrome, developed decreased psychomotor activity and loss of vocalization and walking. He could not sit by himself and became nearly bed-ridden. EEG showed very frequent generalized spike and wave bursts, showing NCSE. Continuous infusion of thiopental diminished NCSE, and he could walk again. Psychomotor deterioration in patients with severe motor and intellectual disabilities may be caused by NCSE, which should not be overlooked.

The management of refractory status epilepticus (RSE) is crucial in preventing neurologic impairment. Although a variety of treatments for RSE including continuous infusion of midazolam (MDL) or pentobarbital (PTB) have been carried out, they are not always effective. Intravenous very-high-dose phenobarbital (PB) has been recommended as having many advantages in the United States, but is not available in Japan. We treated 3 patients suffering from long term RSE with non-intravenous high-dose PB (NIHDPB). Their seizures were not controlled by continuous infusion of MDL and/or PTB. PB was initially given intramuscularly or rectally and then orally. Within a few or ten days, seizures were completely controlled, and consciousness level gradually improved in all cases. The serum levels of PB at seizure control ranged from 50 to 58 micrograms/ml. The epileptiform activities on EEG nearly disappeared in the absence of the burst suppression pattern. Hypotention and respiratory depression did not develop during NIHDPB. Elevated gamma-GTP levels with normal hepatic transaminases were seen in all cases, but it was not necessary to discontinue NIHDPB. NIHDPB may be one of the most effective and safe treatments in Japan for status epileptics refractory to continuous infusion of MDL or PTB.

We report three cases of Costello syndrome (CS) presenting with intractable epilepsy and profound psychomotor retardation/regression. Previous reports on CS described mild to moderate psychomotor retardation, and epilepsy in only 8% of the cases. The details of these neurological complications have not been reported so far. All the present cases had intractable epilepsies and profound psychomotor retardation/regression. Two of them had symptomatic localization-related epilepsies and the other had Lennox-Gastaut syndrome following West syndrome. Unusual complication of profound psychomotor retardation/regression in our cases seems to be caused by intractable epilepsy. It should be noted that CS patients with epilepsy may have more severe central nervous symptoms than those previously reported.

In the past 10 years, we have treated 25 patients with chronic respiratory insufficiency due to a progressive or degenerative brain disorder. Ten patients died and the other 15 survived. Five of the former and 12 of the latter received life-sustaining mechanical ventilation care. Even in the terminal stage of progressive or degenerative brain disorders, patients can survive for a longer period than previously, if life-sustaining mechanical ventilation care is given. In Japan we do not have a guideline for medical indication or decision-making for children with progressive or degenerative brain disorders. Whenever we see such patients, we have great difficulty in making a decision. It may therefore be necessary to discuss whether we should have such a guideline.

Blink reflexes were studied in 41 patients with severe handicaps, and were correlated with feeding problems and other lower brainstem symptoms such as drooling, an absent gag reflex and stridor. Ventrodorsal diameters of the pons and medulla oblongata on sagittal MRI were also studied in 29 of the cases. The patients were divided into three groups: tube feeding (25 cases), oral feeding (13 cases) and mixed feeding (3 cases). In the tube feeding group, all but three cases showed a prolonged or absent R1 component, and all cases showed prolonged or absent R2 and R2' components. These abnormalities were significantly more frequent in the tube than in the oral feeding group. The patients with drooling, stridor or an absent gag reflex more frequently showed prolonged or absent components than the patients without these symptoms. The brainstem size on MRI was not different between the tube and oral feeding group. These results suggest that the blink reflex, particularly its late components, is a useful indicator for evaluating feeding function and other lower brainstem functions.

A 10-year-old boy with Duchenne muscular dystrophy (DMD) underwent uvulopalatopharyngoplasty and tonsillectomy for obstructive sleep apnea (OSA). He has snored loudly during nocturnal sleep since infancy, and OSA developed one and a half years after he was wheel chair-bound at 8 years. Magnetic resonance imaging (MRI), conventional spirometry and overnight polysomnography were performed before and after the surgery. MRI before surgery revealed moderate tonsillar hypertrophy and a long uvula which narrowed the upper airway. After the surgery, his vital capacity (VC) was not changed (% VC; from 77 to 78%), but forced expiratory volume (FEV) was improved (FEV 1.0%; from 75 to 86%). A preoperative apnea index of 32.8/hour decreased to 0.8/hour postoperatively. REM-related falls in HbSaO2 improved remarkably. The present case suggests that subjects with DMD with tonsillar hypertrophy and a redundant uvula tend to develop noctrurnal OSA earlier than DMD cases with a normal tonsil and uvula. Assessment of respiratory function, particularly FEV 1.0%, is important for determining surgical indication of OSA in patients with DMD.

Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant demyelinating peripheral neuropathy. Most patients with CMT1A including sporadic cases have been found to have a 1.5 megabase tandem DNA duplication in chromosome 17 p11.2-p12 (CMT1A duplication). We reported a 7-year-old girl with sporadic CMT 1 associated with the CMT1A duplication. The diagnosis of CMT 1 was based on the symmetrical distal muscle weakness, per cavus deformity, reduced motor and sensory nerve conduction velocities, and segmental de- and remyelinatin on sural nerve biopsy. To detect the CMT 1A duplication, peripheral myelin protein 22 (PMP-22) cDNA and a polymorphic marker in this region, VAW409 R3, were employed as probes for Southern blot analysis. Sporadic cases of autosomal dominant-CMT type 1 can not be clinically differentiated from recessive-CMT1. Testing for the CMT1A duplication is an important first step even in the molecular diagnosis of sporadic CMT1.

Partial motor seizures occur, followed after a variable interval by well-localized myoclonic jerks, in the patients with Kojewnikow syndrome, or epilepsia partialis continua. However, the epileptogenic focus remains to be established. We studied the epileptogenic focus of a 17-year-old boy with intractable Kojewnikow syndrome. Interictal EEG, ictal EEG, jerk-locked averaging, and ictal SPECT revealed a left central focus. A giant SEP indicated increased exitability of the primary sensory area. Magnetoencephalogram (MEG) and electrocorticogram identified the epileptogenic focus in the pre- and post-central cortex, indicating involvement of both the primary motor and sensory areas. Surgical treatment was successful. Thus, MEG proved to be the most accurate tool in the presurgical evaluation.

We examined auditory evoked potentials and passive event-related potentials in two patients with hydranencephaly. In the middle latency response, a Na component was observed in both cases. Mismatch negativity was elicited in response to tone bursts and three patterns of vowel sounds in Patient 1, and three patterns of vowel stimuli in Patient 2. These results implicate the subcortical components of the auditory system in the generation of mismatch negativity.

A four-year old boy with congenital hypomyelination neuropathy (CHMN) had mental retardation and a tic disorder, the latter commencing at 2 years of age. The diagnosis of CHMN was confirmed by electron microscopy of his biopsied sural nerve which showed loss of large myelinated fibers, decreased density of myelinated fibers, many naked axons and atypical onion bulb formation. MR imaging showed type I Chiari malformation in the absence of clinical signs attributable to it. Auditory brainstem response (ABR) showed delayed wave I peak latency, prolonged I--III interpeak latency, broad wave II duration and normal III--V interpeak latency, suggesting abnormal peripheral and normal central myelination. The association of CHMN with mental retardation. Chiari malformation and tic disorder has never been reported, the significance of which remained unclear.

We reported a 13-year-old boy with juvenile Huntington disease diagnosed by DNA analysis. Symptoms started with dysarthria at 6 years of age, which was followed by progressive dysgraphia and gait disturbance due to dystonia from 7 years, and by epileptic seizures from 12 years. Magnetic resonance imaging revealed atrophy of the bilateral caudate nuclei and T2- and proton-weighted high intensity area in both putamina. The CAG (cytosine-adenine-guanine) trinucleotide repeat on chromosome 4 p16 was markedly expanded to 81. For a child with dystonia with mental deterioration, juvenile Huntington disease should be considered in the differential diagnosis.

We report our experience using lidocaine to determine the epileptic focus in a case of refractory status epilepticus associated with an aberrant intracranial shunt tube. Pentobarbital anesthesia rapidly suppressed convulsions. However, whenever the pentobarbital was decreased, the status epilepticus was resumed. The seizure looked primarily generalized both clinically and electroencephalographically, but EEG monitoring with intravenous administration of lidocaine demonstrated that the ictal waves began from the right anterotemporal area, where the shunt valve and tube were placed. Removal of the shunt tube and the surrounding scar tissue eliminated status epilepticus. Our result suggests the excellent efficacy of lidocaine to distinguish secondarily generalized status epilepticus from primarily generalized one.

Two cases of ictal automatisms of frontal lobe origin are reported. Both two cases had automatisms characterized by abrupt onset and ending, short duration, preservation of consciousness and frequent attacks in cluster. The ictal manifestations included rocking of body and violent thrashing of limbs in prone position with loud screaming. No initial staring or postictal confusion was noted. Interictal EEGs showed spikes in the frontal area. Ictal EEGs began with attenuation of background activity and/or fast rhythmic waves dominant in the frontal area. Just after clinical seizures, high voltage slow waves in bilateral frontal areas and rhythmic alpha waves in the occipital areas were recorded. The EEG findings suggested that the paroxysmal activities were localized in bilateral frontal lobes, not spreading to the temporal lobe.

We studied all severely retarded children in a defined area of Japan. The area is a small and rural prefecture with the total population of 880,000. The population of children aged 6-14 years was 102,000. The number of severely retarded children (those who neither walk nor have IQs over 35) was 50. The prevalence rate was 0.49/1,000 and its 95% confidence interval was 0.36-0.65. The rate was significantly lower than that has been reported 20 years ago from another prefecture in Japan. Among the cases, children with very severe retardation (those who are bedridden with their IQs less than 20) accounted for 66% and children who were institutionalized for permanent care accounted for 46%. Association of several disabilities was as follows: cerebral palsy 62%, epilepsy 82%, decreased visual acuity 42%, respiratory distress 16%, and feeding difficulty 32%. The causes of prenatal origin accounted for about two-thirds of the total causes. We concluded that the prevalence rate of severely retarded children is becoming lower in Japan and that the prenatal factors play an important role in the pathogenesis of severe retardation.