[Excitatory psychic symptoms induced by zonisamide in six cases of brain damages].
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Adolescent↗
Biomedical subjects
M Shimohira
Publications and source records attributed to M Shimohira.
Human cytomegalovirus DNA in cerebrospinal fluid.
To determine the involvement of human cytomegalovirus (CMV) in conditions of neurological impairment, detection of CMV DNA was attempted in cerebrospinal fluid obtained from 45 neurologically affected children aged from 1 month to 17 years by means of the polymerase chain reaction. Four patients (congenital CMV encephalopathy with West's syndrome, acute encephalitis, chronic epileptic encephalopathy, and lissencephaly) had CMV DNA in their cerebrospinal fluid. CMV DNA was absent in the cerebrospinal fluid of 11 neurologically unaffected controls aged from 1 month to 11 years. Three patients with acute CMV hepatitis had no CMV DNA in their cerebrospinal fluid. Among the four patients who had CMV DNA in their cerebrospinal fluid, two did not excrete CMV DNA or CMV antigen in the urine. The possible pathogenetic significance of CMV DNA in the cerebrospinal fluid is discussed. By applying the polymerase chain reaction to cerebrospinal fluid, the mode of brain invasion by CMV can be clarified further.
Adolescent↗
[Sleep disordered breathing in group A xeroderma pigmentosum].
We studied sleep disordered breathing (SDB) in 12 patients with group A xeroderma pigmentosum (XP) by means of respiratory inductive plethysmography (Respisomnograph:Nims) during polysomnographical examination. The subjects were 6 male and 6 female patients aged from 10 months to 25 years. Four out of the subjects had SDB:3 showed sleep apnea (apnea index ranged from 5.2 to 44.2/h) and 1 presented desaturation during sleep (desaturation time per total sleep time was 4.3%). All these patients were over 12 years. The patients below 14 years had mainly the central type of SDB, and the others aged over 16 years had both the central and obstructive types of SDB. Three of the 4 patients had daytime sleepiness or restless sleep, which seemed to be due to SDB. We discussed the pathophysiology of SDB with XP in relation with brain stem function and peripheral neuropathy. We must pay attention to SDB in patients with XP aged over 12 years.
Adolescent↗
[Polygraphical sleep study on typical absence: relationship between the effect of sodium valproate and nigrostriatal function].
In order to clarify the mechanism of the effect of sodium valproate (VPA) on absence seizures, we performed sleep polygraph recordings in 10 patients with typical absence. VPA was effective in six cases (group A), partially effective in two (group B), and ineffective in two (group C). In 5 of 9 cases, the tonic sleep components were abnormal. In 4 cases, the percentage of slow wave sleep increased before administration of VPA, and did not change remarkably by its administration. In group A and B, twitch movements (TM), one of the phasic sleep components detected in the mentalis muscle on surface EMG, decreased or were unchanged after administration of VPA, especially during the REM period. In contrast, TM increased in group C. We speculate that the changes of TM (especially in the REM periods) after administration of VPA are well related to its effectiveness. Since TMs are thought to be controlled by the nigrostriatal dopaminergic pathway, the different response of basal ganglia to VPA among cases with absence epilepsy would have some relation to the different effectiveness of VPA in controlling seizures.
Child↗
Phasic loss of intercostal muscle activity occurring with rapid eye movements during REM sleep.
We tried to estimate the phasic motor inhibition occurring with rapid eye movements (REMs) during REM sleep in children by means of polysomnography. Phasic inhibition of intercostal muscle activity with REMs has been proved by averaging the integrated surface electromyograms in three children. The average latency from the onset of REMs to this inhibition was 38.0 ms, their average duration being 237.0 ms. We discussed the possibility that the REM-related phasic inhibition obtained here was involved in the brainstem-spinal cord inhibitory system functioning during REM sleep.
Brain Stem↗
Sibling cases of a degenerative neurological disease associated with hypocupraemia and hypobetalipoproteinaemia.
We describe two siblings, a boy and his younger sister, with degenerative neurological disturbances, hypocupraemia and hypobetalipoproteinaemia. The neurological features in both cases were developmental delay, dysarthria, hyperkinetics with an attention deficit, dysdiadochokinesis, night blindness, myoclonic jerks and convulsions. Their serum cooper levels did not increase despite administration of copper sulphate both orally or intravenously. The copper contents of the cultured fibroblasts in the patients were 1.5-fold that of controls. Although neurological disorders associated with abnormal copper metabolism and inherited in an X-linked manner have been previously reported, this is the first report of a neurodegenerative disease concurrent with abnormal copper metabolism and hypobetalipoproteinaemia.
Adolescent↗
Phasic muscle activity during REM sleep in infancy-normal maturation and contrastive abnormality in SIDS/ALTE and West syndrome.
The generation of phasic muscle activity during REM sleep is regulated by the brainstem. We proposed two sleep indices for phasic muscle activity during REM sleep, and examine their usefulness in assessing normal brainstem maturation and functional brainstem impairment during infancy. One - the dissociation index (DI) - seems to reflect maturation of the tonic inhibitory system functioning during REM sleep, and the other - % body movements in REMs bursts (%BMs-R) - to reflect that of the phasic one. In normal infants, DI showed a gradual, linear and significant increase with age, whereas %BMs-R showed a gradual and significant decrease with age. In infants with sudden infant death syndrome (SIDS) and one who had experienced apparent life-threatening events (ALTE), the DI values were lower than those in controls, although %BMs-R values were identical in the controls. In contrast, DI was variable in infants with West syndrome (WS), while %BMs-R exceeded normal values. The tonic inhibitory system seemed to be specifically involved in SIDS and ALTE, but the phasic inhibitory one in WS. Anatomical differences between these inhibitory systems are also discussed.
Journal Article↗
Polysomnographical study in the patients of frontal lobe epilepsy with ictal automatism.
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Automatism↗
[Polysomnographical studies of a patient with severe myoclonic epilepsy in infancy].
In order to evaluate the brain function of a boy with severe myoclonic epilepsy, we performed serial polysomnographical studies. Although percent slow wave sleep and percent stage REM were normal in infancy, they were reduced with age after 1 year old. Concomitant existence of twitch movements and localized movements of mentalis muscle with REMs bursts, which decreased rapidly during infancy in healthy controls, were paradoxically increased with age in this patients. Since sleep parameters are thought to be controlled by the brainstem neural system, the present observations indicate that the brainstem function of this patient is deteriorated progressively at least during childhood.
Child, Preschool↗
[A patient with lysosomal glycogen storage disease with normal acid maltase].
A 13-year-old boy with mental retardation developed idiopathic cardiomyopathy and glycogen storage myopathy, but with normal lysosomal enzyme activities, consistent with a syndrome of lysosomal glycogen storage disease with normal acid maltase coined by Danon et al (1981). He was in good health except for WPW syndrome diagnosed at 7 years of age. He had heart murmur with abnormal ECG, elevated serum GOT, GPT, LDH, CK and aldolase levels. An echocardiogram showed obstructive hypertrophic cardiomyopathy. Lysosomal enzyme activities including acid alpha-glucosidase in fibroblasts were within normal limits. In the biopsied biceps brachii muscle, there was a mild variation in fiber size. An approximately 10 percent of myofibers had tiny vacuoles which contained periodic acid Schiff positive granules and were slightly high in acid phosphatase activity. The vacuoles were encircled by membranes with high neuron specific enolase (NSE) and acethylcholin-esterase (AchE) activities. On electron microscopy, numerous autophagic vacuoles scavenging glycogen granules were recognized as seen in acid maltase deficiency. Because the vacuolar membranes were high in NSE and AchE activities, lysosomal membrane formation from the cell membrane may be defective. When one has a patient with mild to moderate mental retardation, idiopathic hypertrophic cardiomyopathy and high serum CK level, muscle biopsy must be performed to rule out the present disorder.
Adolescent↗
Sleep disturbance in children with growth hormone deficiency.
We examined the effects of growth hormone (GH) deficiency on sleep development by performing all-night polysomnography in three female children with GH deficiency (GHD). The percentage of REM sleep seemed to be reduced before the treatment in 2 cases, and human GH (hGH) compensation slightly increased it. Submental twitch movements (mTMs), i.e., body movements during sleep localized in the submental muscle and lasting less than 0.5 seconds, were commonly disturbed in the three patients. Rapid eye movements in REM sleep (REMs) were reduced before the therapy in one case, this decrease being reversed on hGH compensation. REMs also seemed to increase after hGH treatment in the other two cases. Dopamines and cholinergic muscarinic agonists can cause GH release, while mTMs and REMs might be related to dopaminergic and cholinergic systems in the human brain. It is intriguing that GHD, and the disturbance of mTMs and REMs coexisted in children with GHD. Since a relatively poor social outcome in patients with GHD has been reported, even after hGH compensation, it is important to monitor their neurological development by means of evaluation of their sleep disturbance.
Child↗
Polysomnographical study in the patients with West syndrome before treatment.
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Child↗
Partial deficiency of cytochrome c oxidase with isolated proximal renal tubular acidosis and hypercalciuria.
We report the case of a 5-year-old boy with mitochondrial cytopathy due to a partial deficiency of cytochrome c oxidase who had isolated proximal renal tubular acidosis and hypercalciuria. The patient developed hypotonia and blepharoptosis and exhibited growth retardation. Biochemical examination of muscle tissue revealed a partial deficiency of cytochrome c oxidase. He was treated with an alkali, hydrochlorothiazide, and indomethacin. After treatment, metabolic acidosis and hypercalciuria improved, and the patient had a catch-up growth phase. This case emphasizes the importance of performing renal tubular functional investigations and treatment in patients with mitochondrial cytopathy, even in the absence of multiple proximal tubular dysfunction.
Acidosis, Renal Tubular↗
Developmental change of dopamine beta-hydroxylase activity in cerebrospinal fluid of epileptic and non-epileptic children.
The developmental change of dopamine beta-hydroxylase (DBH) activity in cerebrospinal fluid (CSF) of epileptic children was studied. Non-epileptic children showed lower DBH activity in CSF than adult, and its activity increased with age. In contrast, epileptic children showed no increase in DBH activity with age. DBH in CSF may be a good index of noradrenergic function in child brain. The results on developmental change in DBH in CSF suggest that refractory epilepsy with long term medication has decreased activity in central noradrenergic neurons.
Adolescent↗
[Neurophysiological studies on group A xeroderma pigmentosum in early childhood].
Neurophysiological studies were performed on 8 patients with group A xeroderma pigmentosum during early childhood. EEG, ABR and NCV were normal during this period. In contrast, various sleep parameters detected by polysomnography showed abnormal findings even in the neurologically normal patient. Decreased % sleep REM was seen in a case, and decreased frequency of REMs were seen in another. Body movements were extremely high or low in frequency in 3 cases in whole night sleep. The distribution of body movements were abnormal; in control subjects, the frequency was higher in SREM and stage 1 than in slow wave sleep; in 7 cases, it was higher in slow wave sleep than in stage 1 or 2, or body movements were extremely frequent. Neurological examination revealed soft signs in various systems in early childhood. All cases except one showed hypotonia. Many cases were slow in learning to walk and the gait was unstable. Speech delay and decreased deep tendon reflexes, especially of patella, were seen in most cases. Since the neural deficits in XP may be related to the DNA repair defect, these findings indicate the possibility that some endogenous compounds distributing all over the nervous system might produce the DNA damages. Because the body movements during sleep are controlled by the nigrostriatal dopaminergic system, present data indicate that the basal ganglia might be one of the earliest degenerative systems in the CNS. Recently, some studies have suggested the possibility that oxygen radical mechanisms might be involved in the development of the dopamine neurodegenerative process in Parkinson's disease.(ABSTRACT TRUNCATED AT 250 WORDS)
Age Factors↗
Mexiletine hydrochloride in an infant with intractable epilepsy.
A female infant with seizures refractory to conventional therapeutic agents was presented. Mexiletine hydrochloride, administered orally, was effective in controlling her seizures. Her sleep structure and psychomotor development seemed to improve after reduction of the fits.
Electroencephalography↗
The effect of ACTH on dopamine beta-hydroxylase activity in cerebrospinal fluid of epileptic children.
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Adolescent↗