Averaged auditory evoked responses (AER) were obtained bipolarly from C-O, in 13 AFD and 6 SFD infants.T he recordings were made polygraphicallyd uring natural sleep and longitudinallyf rom 30 through 49 weeks' post-conceptionala ge. The stimuli were also given separatelyd uring the“bu rst”and “flat”periods of the trace alternant There were two types of AER wave forms. Type A consisted of initialn egative deflection (N1) with the peak latency of about 80m sec and the following positivec omponent P2 with latency of 2 10m sec. The first P1 deflection was not found constantly. Type B has peaks of N1, P2, N2 at 250m sec and P3 at about 470m sec. Type A responses were mainly found in infantsy ounger than 33-34week s, post-conceptionala ge and Type B mainly in infants older than 35-36weeks (Tab.1).There was no difference in AER wave form among different background EEG patterns, sleep with trace alternant and “burst” or “Hat” period of trace alternant. The latency of the component P2 and N2 decreased with maturation in both sleep stages.The amplitude of N1-P2 decreased withpost-con-ceptional age. After 35-36 weeks, the peak latency of N2 is significantly shorter in REM stage than those in trace alternant stage. In contrast, no difference was found in the amplitude between RE M and trac E alternant. From these resu/ts, it may be concluded that the AER is useful for the as sess ment of maturation.
Two cases of Infantile Neuroaxonal Dystrophy in male siblings were reported. Their parents had consanguinity. In both cases, their development during infancy was normal. At about one year of age, the patients began to show gradual regression in motor performance. They were admitted to the hospital at the age of 31/12 and 31/2 years, respectivly. On admission, they showed almost similar neurological findings: Poor spontaneous movements, generalized hypotonia and diminished tendon reflexes, which were marked in the lower limbs, bilateral optic atrophies, diminished response to pinprick. No convulsions were noted. The laboratory data showed slight elevation of GOT and LDH in cerebrospinal fluid and serum. The electroencephalograms showed background of continuous diffuse irregular fast activity. The pneumoencephalograms showed the enlarged fourth ventricle and cisterna magna. In case 1, the biopsy of cerebral cortex was performed, and pale eosinop hilic bodies were seen in gray matter structures. In case 2, there was no clinical response to perioral administration of large dosage of vitamin E although there are reports suggesting vitamin E deficiency in this disease. The pathological examina tion revealed numerous spheroids in tegmentum of the brain stem and posterior horn of the spinal cord, and abundant pale eosinophilic bodies in the cerebral cortex, basal ganglia, thalamus and hypothalamus.
Since the initial report by Leigh (1951) of an unusual infantile encephalopathy, subacute necrotizing encephalopathy, approximately 70 such cases have been reported. The disease entity is based on pat hological changes characterized by bilateral necrotizing lesions in brain stems. The etiology and pathogenetic mechanism is still unknown, but recent reports have suggested that it might be associated with an inborn error of metabolism. This report describes a four-year-old girl with clinical pictures suggestive of Leigh's encephalomyelopathy. The patient showed intermittent episodes of ataxia, myocl onic movement and emotional disturbance. Serum levels of pyruvate, lactate and alanine were found to be elevated. In liver tissue obtained by biopsy there were decrease in the activity of pyruvate car boxylase and normal activity of pyruvate decarboxylase. Possible relationship between Leigh's encephalomyelopathy and disturbance in pyruvate metabolism is discussed.
16 cases of severe brain damaged children suffered from obstetrical abnormalities were analysed clinicopathologically. Neurological findings revealed severe mental retardation, epilepsy and many types of motor dysfu nction, i. e. spastic, rigid or rigid-spastic tetraparesis with or without athetosis. EEG tended to reveal seizure activities with central and occipital foci. PEG was performed in 8 cases, and 4 of them revealed localized ventricular dilatation, which sug gested the localized brain atrophy in bilateral central and occipital area. And in another 4 cases, PEG revealed marked diffuse ventricular dilatation. In 3 autopsy cases, brain surface showed marked cortical sclerosis around bilateral precentral gyrus and occipital area. These findings may be correlated with the localized ventricular dilatation revealed in PEG, and are thought to be the sequelae of the cortical damage due to mculding at coronal and lambdoid suture in birth canal or by mechanical compression at delivery.
The sucking movements of infants were analysed by means of a physiological methods. It was particularly aimed at clarifying the properties which control the regulating system of the sucking movements. The nutritive sucking rhythms of human infants were found to be regulated by the food intake system, while the non-nutritive sucking rhythms were controlled by the respiratory and vocal system. By means of the respiratory and vocal system peculiar properties of development and growth are germinated in human infants which are unknown in other mammals. In consideration of the above it is believed that the period of non-nutritive sucking bridges the gap from the state of wakeful activity to the state of restfulness and sleep. When pre-verbal communication comes into existence which establishes the relationship between the subject and its surrounding world non-nutritive sucking movements are no longer observed.
Twenty-eight cases of the infantile arterio-venous malformation (age below 16 years) out of overall 116 A-VM experienced in past 10 years were clinically discussed. The initial clinical symptom was subarachnoid hemorrhage in 25 cases and seizure episode in 3 cases. The operative intervension was performed in 17 cases in which the mortality was none. Whereas 11 non-operative cases recorded 1 expired case due to intracranial hemorrhage. The prognosis in the operated group is as follow … 13 cases (76.5%) show no neurological defecit and 4 cases (23. 5%) manifest minimal neurological sequella. The infantile cases used to show better and prompter recovery in post-operative neurological compli cations than in the adult cases and rather apt to repeat hemorrhage episode more frequently. Ac cordingly we basically to consider the positive operative procedure for the infantile A-VM except for the ones situated in basal ganglia or brain stem.
The biochemical abnormality in the Sanfilippo syndrome was reported by Meyer and Hoffman and later confirmed by Sanfilippo and co-workers. They found that scme gargoyle-like patients excreted excessive amounts of heparan sulfate in the urine. The clinical characteristics are severe mental retardation and relatively mild somatic changes. The Sanfilippo syndrome (MPS III) is inherited as an autosomal recessive trait like Hurler synd rome. Case Y. N., a boy aged 5 years and 11 months, was first seen in January, 1971. The parents are apparently unrelated. For the first 3 years of life, the boy was not considered abnormal. In the latter part of his forth year delayed speech and an increase in aggressive behavior were noted. Thereafter, agitation increased markedly. His clinical symptoms were good bodily strength, gargoylelike face, mental retardation with delayed development, hepatomegaly, and stiffness of large joints. There was us cloudy cornea or hearing loss. X-ray showed thickened calvarium, oval vertebrae and pelvic dysplasia. Urinary acid mucopolysaccharide was chemically isolated, most of which was heparan sulfate: there was no dermatan sulfate.
Developmental anomalies of the vermis of the cerebellum are rare as far as one may juge from the literature. Three children who involved their cerebellar agenesis of vermis were associated with muscular hypotonia, abnormal eye movement. One of them involving complete agenesis of vermis revealed voluntary movement at late. k The others had imcomplete agenesis which consisted of the pcsteroinferior vermis. They had the same findings which were instituted displacement of pyramidal tract among the brain stem, congenital cystic kidney and liver fibrosis. These findings are related to their midline malformations, which frequently coexist with agenesis of vermis. Agenesis of the vermis is asymptomatic itself. In our syndrome discussed here revealed voluntary movement with development might be ane1 tp l with malformation of nontine and medullary structure. Appraisal of anatomic abnormalities in various organs, together with the clinical findings, might have a place the tentative time of developmental disturbance between five and seven months of gestation. Further accumulation of children with congenital agenesis of vermis together with histologic examination of their cerebrum including brain stem, kidney and other organs, will be required before comprehensive classification of this syndrome is offered.