A child case with idiopathic dystonia is presented, who has shown remarkable improvement for twelve months by L-DOPA administration. This Japanese girl, six years and one month old, had been completely healthy until the age of five, when gait disturbance appeared, which gradually increased. On examination in Dec. 1970 she presented marked difficulty in gait with tremor of arms, plantar flexion-inversion of feet, dynamic dystonic posture with rigidity and lumbar lordosis. The level of serum ceruloplasmin was normal. PEG, CAG, EEG and fundoscopic examination revealed no abnorm alities. Three months after admission, her gait became more deteriorated and L-DOPA treatment started, with inital dosage of 100 mg daily and gradually increasing up to 300mg. Seven days after 300mg of L-DOPA administration, gait disturbance and dynamic dystonia were remarkably improved. She has been under continued medication of L-DOPA for about twelve months till present and maint enance dose is now 400 mgdaily and she is in quite satisfactorily good condition.
This report was based on 37 cases with pure petit mal (absence), which were observed at the Departments of Pediatrics of Tokyo Women's Medical College, Keio University, and at the Section of Neurology, National Children's Hospital, from April 1967 to August 1971. 1) The onset of the illness occurred mostly between the fourth and ninth years of life. Two thirds of the affected cases were girls. 2) Twenty-three cases (62.2%) were not preceded by other epileptic seizures, 12 cases (32.4%) had grand mal or febrile convulsion (mixed form by Fukuyama) prior to the onset of pure petit mal. 3) The material was classified according to the clinical manifestation during the absence attacks. Absence (simple form) was abserved in 29 cases (78.4%). absence with automatism in 7 cases (18.9%), absence with focal motor seizure in 1 case (2.7%). 4) As to the EEG abnormalities in addition to the burst of bilateral synchronous 3 c/s spike and wave complex, focal spikes were observed in 3 casas (γ-frontal region in 2 cases, r-antetemporal region in 1 cases), focal spike and wave complex (γ-occipital region) in 1 case. The background activity showed the slightly or moderately diffuse irregular slow waves in 22 cases (59.5%), and this pattern was commonly seen in cases associated with grand mal or febrile convulsion. 5) Of 23 cases who had been followed for at least three years after the initial attack of absence, 3 cases (13.0%) developed subsequent grand mal. This percentage was rather lower than the results of previous studies. Twenty cases (87.0%) had ceased to have pure petit mal and other epileptic attacks clinically, 2 cases continued to have pure petit mal, 1 case to have both grand mal and pure petit mal. 6) Seven cases were tested with repetitive systemic injections otismall doses (1mg/kg) of thiopental sodium, postulating that the test might be able to differentiate primary or secondary bilatral synchrony. The most common EEG response obtained among subjects was of type. I which was considered to be characteristic for primary bilateral synchrony according to Lombroso's description.
Neuroepidemiological surveys conducted on cerebral palsy in Okayama Prefecture in 1964 revealed that in 138, 414 children under 6 years old, 268 subjects (0.19%) had cerebral palsy. The follow-up studies from the standpoint of developmental neurology on these 268 patients were performed four years and four months to six years and four months after the initial survey, and the following results were obtained. (All patients are in school age at this point.) 1) Follow-up examinations were carried out on 206 (76.9%) of 268 cases, of which 41 cases (15.3%) had already died. 2) There were 13 cases (4.9%) who showed little or minimal disturbance of motor functions. These cases were considered to have improved spontaneously. 3) Fourty-two cases (15.7%) were found to be severely handicapped mentally as well as physically. 4) At the initial examination the most predominant type was the spastic one found in 103 cases (62.8%), but this type decreased to half in number by the time of the school age, while dyskinetic type (athetosis and dystonia) increased in number. 5) Spastic type turned in three different ways of manifestation, namely unchanged, dyskinetic type and spontaneous improvement. 6) Dyskinetic type showed essentially no change in clinical picture. 7) No case of hypotonic or rigid type was found in this survey. Most of the cases presented either of the type stated above, namely spastic, dyskinetic, or spontaneous improvement. 8) Clinical epilepsy was observed in 34 (12.7%) of 268 cases at the initial survey, and this complication increased to 42 (25.6%) of 164 cases at the later date.
An electro-encephalographic study was performed on twenty-eight cases of infantile hydrocephalus excluding dysgenetic hydrocephalus and/or hydroencephalodysplasia. Concerning with the ventriculoa triostomy, the preoperative and postoperative findings of EEG were particularly investigated. The following results were obtained: 1) In sleep EEGs of preoperative 28 cases, various types of abnormal findings such as asynchrony, multifocal spikes, asymmetry, slow wave focus and monorhythmic delta burst were frequently observed. 2) Comparing with the existence of communication in the aqueduct, thickness of the pallium and pressure of cerebrospinal fluid, asynchrony of EEG were significantly prominent in the cases of noncommunicating type with thinner pallium and more increased CSF pressure than that of the others. 3) An early improvement of functional disorder of diencephalon or brainstem due to enlargement of ventricular system could be expected by the surgical procedure of V-A shunt from the findings of EEG. A further follow-up investigation should be continued for the final conclusions upon the effects of ventriculoatriostomy on the disorder of cerebral function in infantile hydrocephalus.
1) In the past 13 years, 14 cases of spina cystica were treated in our clinic. They consisted of 6 cases of meningocele, 6 cases of myelomeningocele and 2 unclassified cases. Sites of lesions were lumbar in 8, lumbosacral in 2 and sacral in 2 cases. 2) The most frequently observed complication was hydrocephalus. It was found in 6 cases. 3) Operative repair was performed in 11 cases (5 meningocele and 6 myelomeningocele cases). Two cases had undergone repair operation in other clinics. Ventriculo-trial shunt operation alone was performed in 1 case. Ventriculo-atrial shunting was performed 12 times in 6 cases of spina bifida complicated with hydrocephalus. Operative deaths were 2 (1 following repair operation and 1 following shunt operation). 4) Remote study, performed at 9 months through 9 years, and 7 months postoperatively, revealed that all the 9 cases, in which information was obtained, were alive. However, in 7 of the 9 cases some or other kinds of impairments remained. Only 2 cases of meningocele were spending normal life. Thus functional prognosis of spina bifida cystica generally appears to be poor.
A girl aged 43 months, who, from the age of 3 months, has suffered from generalized muscular hypotonia and weakness, is described. After beginning to walk without a support at 20 months, mild waddling gait and Gower's sign was observed until the last examination. The clinical and laboratory findings, such as mild proximal muscular atrophy, normal intelligence, myogenic pattern in EMG record and moderately elevated serum CPK level, suggested that the patient's condition might belong to a benign or milder type of congenital muscular dystrophy. Histological exmination of a muscle biopsy showed mild peri- and endomysial fibrosis without fatty infiltration, and mild variation in fiber size. It was one of the most characteristic features in this case that the small fibers, measured up to 5-10 microns in diameter, were scattered among the relatively normal-structured large fibers. In electron microscopical examination, these small fibers which contained centrally situated large nuclei and some dispersed myofibrils at the periphery of the cytoplasm, were thought to be a persistence of foetal muscles in extra-uterine life.
The patient was a 13 month old female, who was erroneously said to be normal twice, by a surgeon prior to admission in spite of her cranial deformity. Her birth and family histories were unrem arkable, and the postnatal development appeared normal. On admission she was suspected to have mental retardation, because of her poor interest to the environment. Ocular hypotelorism was noted. The metopic suture showed already complete obliteration, ridging from glabella to bregma. The frontal eminence was disappeared, and the forehead appeared triangular when viewed from above. There was no other cranial deformity, and the diagnosis of simple trigonocephaly was made. Although there has been no case report of trigonocephaly in Japan in the last 15 years, the incide nce of trigonocephaly in the Japanese seemed to be the same as in foreign countries, being 10 to 15% of craniosynostosis. The optimal time for operative treatment of trigonocephaly is generally considered to be the first 2 or 3 months after birth. To our experience on the present case, however, the recovery from a cranial deformity can be obtained even later than this period. The clinical features including radiological findings, diagnosis and surgical treatment of trigonocephaly were discussed with the review of literature.
Schizencephaly is symmetrical developmental defects in the cleavage planes of primary cerebral fissures. The pathogenesis is unknown, but it appears clear that the anomaly occurs early in fetal life. Schizencephalies divide into two groups: those without hydrocephalus and those with hydrocephalus. This paper describes a typical case of schizencephaly with hydrocephalus from the point of clinical and neuroradiological views. An eleven month-old male was admitted because of developmental arrest and microcephaly. At the age of four month, it was noted that he could not control his head and he stiffed up. His head began to stay in the thrown back position. When he admitted, he kept his posture of the so-called decerebrate rigidity. He was evaluated as developmental level of 3 month. EEG findings revealed focal slow activity and tendency of dysmaturation. Craniograms showed no abnormality. Pneuromoencephalograms showed symmetrical ventricular delatation with porus in the region of temporal lobe bilaterally. And the late ral ventricles communicated each other, because of defect of septum pellucidum. Cerebral angiographic findings were following as: 1) Middle cerebral artery shows symmetrical separation of its Sylvian segments with avascular area within the separated branches. It is corresponding to porus. 2) While the anterior portion of the Sylvian segment has only ascending branches, the posterior portion of it has only descending ones. 3) Well-developed vascular area of the basal nuclei is recognized. 4) No obstruction is seen in any cerebral arteries, superficial veins and sinus system. RI-cisternograms showed early ventriclar reflux and delayed clearance of RI-activity. The patient recieved ventricular-peritoneal shunt opration. The opisthotonic posture subsided but the spastic tetraparesis remained. So it was considered that hydrocephalic process was responsible for the poisthotonic posture.
34 cases with infantile spasms with hypsarrhythmia were examined polygraphically (EEG, EOG, EMG and: respiration) during the spontaneous night sleep. The EEG in paradoxical sleep stage was studied, In 12 of 34 cases (35%), 14-19c/s, fast wave bursts of ca. 1 second duration appeared periodically in all leads. In 2 cases a certain number of fast wave bursts were seen to occur periodically during the course of paradoxical sleep until clinical attacks occurred at last in association with the same form of fast wave bursts. 16 of 34 cases (47%) showed the spike focus mainly in occipital region. The ictal EEG in (infantile) spasms has been known to show one of the following: a) desynchroniza tion, b) paroxysmal hypersynchrony or c) no changes. A striking similarity between the above mentioned wave bursts seen during paradoxical sleep and ictal EEG findings led us to postulate that the same neurophysiological mechanism would be involved in paradoxical sleep and in attacks of infantile spasms. In view of the recent work by Jouvet et al, pontile reticular formation may be responsible for the attacks of infantile spasms. On the other hand, the persistence or appearance of focal spikes in some cases of infantile spasms strongly suggests the participation of the cortex in pathogenesis of this disorder.