Embolization for asymptomatic aneurysms of the first jejunal artery.

In a 71-year-old man with a history of coronary artery bypassing using the left internal thoracic and gastroepiploic arteries, the first jejunal artery aneurysms were found by chance at 3D-CT performed to evaluate conditions of the grafts. He was successfully treated by transcatheter embolization using interlocking detachable coils. During a follow-up period of 5 months, the patient did well and had no sign of intestinal ischemia.

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.

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.

Phasic motor activity reduction occurring with horizontal rapid eye movements during REM sleep is disturbed in infantile spasms.

Single polysomnography was performed before treatment in 17 patients with infantile spasms (IS) (13 with a cryptogenic type and 4 with a symptomatic one). Their sleep components during rapid eye movement (REM) sleep were compared with those in 22 age-matched controls. The tonic muscle atonia during REM sleep was observed in all IS patients as in controls. The amount of REM sleep in IS patients was significantly lower, while the incidences of gross movements, phasic chin muscle activity, and bursts of horizontal rapid eye movements were identical with those in controls. The phasic inhibition index (PII), i.e., the rate of simultaneous occurrence of phasic chin muscle activity and bursts of horizontal rapid eye movements, was significantly higher in IS than in controls. The PII value was the only parameter that reflected our patients' prognosis among the obtained REM sleep parameters. We presume that the elevated PII in IS reflects the weakness of the phasic motor activity reduction occurring with horizontal rapid eye movements, and attribute this disturbance to a functional instability of the rostral pontine tegmentum. We propose that PII is a useful parameter for assessing the prognosis of IS. Considering the neural basis for elevated PII in IS, this index is expected to provide a clue for explaining the pathophysiology of IS.

Rapid eye movement sleep in breath holders.

One-night polysomnography was performed on seven subjects suffering from breath-holding spells, including one whose death was suggested to be a consequence of a breath-holding spell. The fatal case showed no rapid eye movements (REMs) during REM sleep, although he exhibited REMs during wakefulness. The average numbers of both REMs and bursts of REMs in REM sleep in the other six breath holders were significantly lower than those in age-matched controls. The breath holders showed no airway obstruction, desaturation, or sleep fragmentation. Since the rapid ocular activity in REM sleep is generated in the brain stem, we hypothesized that a functional brainstem disturbance is involved in the occurrence of breath-holding spells.

Brainstem control of phasic muscle activity during REM sleep: a review and hypothesis.

For the generation of phasic muscle activity during rapid eye movement (REM) sleep, strong motor excitation to overcome both tonic and phasic inhibition is needed at the motoneuron level. Descending pathways originating in the rostral pons (cholinoceptive (nucleus reticularis pontis oralis-->nucleus reticularis gigantocellularis, peri-locus coeruleus pars alpha-->nucleus reticularis magnocellularis) and cholinergic (pedunculopontine tegmental nucleus-->nucleus reticularis paramedianus) pathways) are involved in motor inhibition during REM sleep. Since the origins of excitatory drives related to phasic muscle activity during REM sleep are also in the brainstem, the occurrence of phasic muscle activity can be said to be determined by brainstem activity. We review the basic and clinical studies on phasic muscle activity during REM sleep and propose the possibility that it can be a beneficial parameter for assessing brainstem activity, especially in relation to its maturation during early stage of life.

A case of chronic epileptic encephalopathy of neonatal onset. A probable concern of human cytomegalovirus.

A 10-year-old male patient, who had suffered from intractable convulsions from the neonatal period, is presented. Serial brain images suggested slow, gradual destruction of neural elements. Human cytomegalovirus (HCMV) DNA was detected in his cerebrospinal fluid (CSF) by means of the polymerase chain reaction. Intrathecal interferon had a favorable effect on his seizures. We assume a close relationship between HCMV and some chronic types of epileptic encephalitis/encephalopathy.

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.

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.

Effect of alpha-methyldopa administration during pregnancy on the development of a child's sleep.

A male infant was born to a mother who had been suffering from primary hyperaldosteronism with the administration of alpha-methyldopa (MD) during pregnancy. His behavioral development, especially that of sleep, was studied by means of sleep-awake rhythm and polysomnography recordings (PSG) from 2 months to 2 years and 5 months of age. His daily sleep-awake rhythm showed some abnormal pattern. As to the PSG, the proportion of each sleep stage was normal and the two types of body movements (BM) showed various patterns. A paradoxical increase was seen in the twitch movement of some muscles. MD affects the catecholamine system in the CNS and human sleep. Since the sleep-awake rhythm and BM are thought to be related to the monoaminergic system in the CNS, we assume that his behavior and sleep disorders are the effects of the maternal MD administration during pregnancy.

A patient with mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency.

We report on a boy with normal mental development who had muscle hypotonia and congenital dislocation of the hip and knee joints. Histochemical and biochemical examinations of his muscle specimen revealed no succinate dehydrogenase (SDH) activity. Since the NADH cytochrome c reductase and cytochrome c oxidase activities were normal, we concluded that he had an isolated SDH deficiency. Our patient provides further evidence for the clinical variability of this disorder.

Polygraphical study on age dependent epileptic encephalopathy--relationship between body movements during sleep and prognosis.

Body movements (BMs) during sleep in patients with age dependent epileptic encephalopathy (ADEE) were studied polysomnographically in order to clarify the underlying mechanism of intractability and the age dependent trend. Twenty patients were divided into two groups according to the prognosis of convulsions. In the good prognosis group, BMs were nearly normal except for a low frequency in some cases. In the intractable group with seizures which were uncontrollable by medication and recurred within a year, BMs showed abnormalities as follows: abnormal distribution according to sleep stages, and/or a low frequency; increased BMs on therapy with prednisolone or ACTH. Moreover, a paradoxical increase of BMs with age and recurrence of seizures concomitantly occurred in the course of the disease. Status epilepticus appeared in cases under 1-DOPA administration or with a strikingly high frequency of BMs. Since electrophysiological evidence indicates that BMs during sleep are modulated by the dopaminergic (DA) system, the present data might suggest that prognosis of convulsions in ADEE depend upon, at least in part, the DA system. And denervated supersensitivity of that system might give rise to recurrence of seizures and status epilepticus.

Impairment of respiratory rhythmogenesis and sequelae of bacterial meningitis.

A 9-year-old boy with respiratory disturbance associated with medullary lesions after pneumococcal meningitis is reported. Although he lives a normal daily life, he cannot cough or sneeze. A polysomnographic study revealed a low respiration rate and an irregular respiratory rhythm not only during REM sleep but also during slow wave sleep, and marked desaturation during sleep. Respiratory function tests including CO2 response revealed normal values. Magnetic resonance imaging demonstrated bilateral small lesions in the medulla. This patient is unusual because respiratory rhythm is impaired, without decreased ventilatory capacity or CO2 response, supporting the possibility that rhythmogenetic respiratory neurons are located in a limited area of the human medulla.

[A case of neonatal meningitis due to Flavobacterium meningosepticum successfully treated with cefmetazole and cefotaxime].

A 3-day-old male infant, weighing 3,413 g and a gestational age of 38 weeks developed neonatal meningitis due to Flavobacterium meningosepticum. Treatment with cefmetazole and cefotaxime led him to a complete recovery without neurologic deficit. Of 82 previously published cases under 1 year old, 41 cases died and 16 of survivors developed hydrocephalus because the organism was resistant to many antibiotics. Therapy of meningitis due to the organism has not been standardized but the early laboratory identification and the choice of effective and safe antibiotics determined by antimicrobial sensitivity test improve the outcome.

[Auditory brainstem responses in group A xeroderma pigmentosum].

Xeroderma pigmentosum has been known to result from disturbance in the repair of injured DNA caused by the ultra violet light. According to cell fusion studies, this disease is classified into 8 groups. Among these groups, group A (A-XP) shows the most severe type of neurological disturbance. Slowly progressive diffuse impairment both in the central and the peripheral nervous systems has been reported. Although hearing loss occurs in all the patients, few papers have described the chronological changes of this disability. This study aimed to clarify the development of audiological abnormalities in A-XP patients. We recorded auditory brainstem evoked responses (ABRs) in 20 Japanese children with A-XP. All patients had homozygous intron 3 splicing mutations of xeroderma pigmentosum group A complementing gene, the most common type mutations in Japan. ABR threshold, peak latency of 5th wave and the peak interval latency between the 1st and 5th waves (I-V interpeak latency) were measured, and were compared with those obtained from age-matched controls. ABRs were well detected in all patients examined under 4 years old. The I-V interpeak latencies became shorter with age as in the controls. In 3 ears, the 5th wave was recorded without 1st wave. In 4 ears which no ABRs were detected with 90 dBHL stimulation, the only 5th wave was detected. No waves were obtained from the patients aged over 10 years. The current study revealed that ABR disturbance in A-XP patients became obvious after 4 years of age. In addition, no ABR was found to be identified after 10 years of age. During 4 to 10 years of age, some patients showed the elevation of the threshold of the 5th wave. In A-XP patients, the peripheral nerve was hypothesized to be affected earlier than the central pathway involved in ABR.

[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)

[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.

[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.

[Disturbance of active sleep components in neonates with congenital hypothyroidism].

In order to investigate the effect of hypothyroidism during the early development on the functional brainstem maturation, polysomnograms were recorded on 7 patients with congenital hypothyroidism detected by neonatal screening before treatment. The following two sleep indices for phasic muscle activity during rapid eye movement (REM) sleep were evaluated: dissociation index (DI) and % body movements in REMs burst (% BM). The DI is defined as the ratio of the number of twitch movements (TMs) during REM sleep to the sum of TMs and localized movements (LMs) during REM sleep. The % BM is the percentage of TMs and LMs which occur during bursts of REMs in relation to the sum of TMs and LMs during REM sleep. The DI and % BM can reflect maturation of the tonic and phasic inhibitory system functioning during REM sleep, respectively. In congenital hypothyroidism, DI was lower than that in controls, while % BM was identical. The tonic inhibitory system was specifically involved, whereas the phasic one was preserved. It is suggested that thyroid hormone could play an important role on the functional brainstem maturation. We propose to investigate their neuropsychological development over the long term to elucidate the influence of hypothyroidism.

[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.