This report was based on 20 cases with myoclonic seizures, which were followed for more than three years at the Department of Pediatrics of Keio University from January 1963 to May 1975.
Myoclonic seizures were defined as follows:(1) the attacks were characterized by brief, sudden and violent jerks of several symmetrical segments (usually head, neck and limbs) or of the whole body and occurred frequently, (2) the interictal EEG patterns consisted of the diffuse paroxysmal discharges of several types including polyspike, spike or sharp and wave complex and polyspikes, and (3) the patients with infantile spasms and progressive diseases of CNS were excluded. The cases which satisfied the conditions (1), (2) and (3) were defined as myoclonic seizures.
Of the 20 cases, 11 (55%) were males and 9 (45%) were females. The onset of myoclonic seizures was in most cases between the six months and five years of age. Their ages at the time of this report were between the five and twenty years of age. Ten (50%, Type I) out of the 20 cases were not preceded by other epileptic seizures, 2 cases (10%, Type II) had grand mal prior to the onset of myoclonic seizures, 3 cases (15%, Type III) had Lennox syndrome at the time of onset, while other 5 cases (25%, Type N) had infantile spasms prior to the onset of myoclonic seizures.
The results were summarized as follows.
(1) Out of all 20 cases, complete disappearance of fits was noticed in fifteen (75%), improvement in three (15%), while the remaining two children had their fits unchanged. Other epileptic seizures were never seen at the time of follow-up. Seven (58%) out of 12 cases with both Type I and II were seizure-free for more than two years, whereas only one (13%) out of 8 cases with both Type III and N were seizur-free for the same period, but this difference was not statistically significant because of a small number of cases.
(2) Slightly or moderately dysrhymic background activity during the awake resting periods was observed in three fourths, and a normal rhythm in only two cases at the final EEG recordings. A normal or slightly dysrhythmic background activity was found in most children with both Type I and II, and a moderate or marked, dysrhythmic in all children with Type N. Paroxysmal discharges including diffuse polyspike, spike or sharp and wave complex, modified hypsarhythmia and focal spike were recorded in 13 cases (65%) at the final EEG recordings.
(3) Normal I. Q. or D. Q. was present in 8 cases (40%), while the others had borderline or retarded I. Q. or D. Q. (borderline retardation in two cases and mild, moderate or severe retardation in ten cases) at the final examination. Normal I. Q. or D. Q. was found in most children with both Type I and II, and borderline and retarded I. Q. or D. Q. in all children with both Type III and N.

View full abstract

Six patients with myotonic dystrophy in two families were reported.
FAMILY K. Two siblings, a 12-year-old boy and a 9-year-old girl, had histories of asphyxia and difficulty in sucking in the neonatal period, and showed a marked developmental delay. They were clumsy and slow in motion in their childhood. On examination, they rarely spoke and followed only simple directions. They walked awkwardly, and myotonia with muscular wasting was found. Cerebral atrophies on CT scans and cataracts were detected. These cases were considered congenital myotonic dystrophy.
Their mother, a 32-year-old woman, was healthy in her childhood and adolescence. She noticed easy fatigability and began to walk slowly after the first delivery. Muscular atrophy and myotonia were found on examination. She could speak fluently, but she was not cooperative. Cataract and cerebral atrophy were detected. Serum creatine phosphokinase (CPK) and IgG were normal in these cases.
FAMILY M. Two siblings, a 14-year-old boy and a 10-year-old girl, were born after uneventful deliveries, and began walking and speaking at 12 months of age. They were noted to be clumsy in their early childhood. They entered an elementary school, but made poor records at school. The brother complained of progressive difficulty in running. On examination, he was cooperative and muscular wasting with myotonia was found. Serum CPK was 615 IU/L (normal range: below 95 IU/L), and IgG was 528 mg/dl. The sister had consulted an ophthalmologist because of visual impairment, and cataract was detected. Her grip was 4-6 kg and percussion myotonia was found, but she had no complaint of daily life difficulty. Serum CPK was 220 IU/L and IgG was 517 mg/dl.
Their mother, a 37-year-old woman, noticed marked body weight loss and complained of difficulty in smooth movement of hands after the second delivery. On examination, muscular wasting and myotonia were found. She had normal intellect and no cataract. Serum CPK and IgG were 247 IU/L and 1243 mg/dl, respectively.
ELECTROPHYSIOLOGICAL STUDIES. On electromyography, myotonic discharges were disclosed in all cases. Most neuromuscular units were normal in amplitude and duration, and some polyphasic changes were found sporadically. The mean motor nerve conduction velocities in the ulnar and peroneal nerves were decreased significantly. The mean sensory nerve conduction velocity in the median nerve was decreased significantly in the distal part (from finger to wrist), but normal in the proximal part (from wrist to elbow).
These results indicated that peripheral nerve involvement, not only motor but also sensory nerves, occurred in myotonic dystrophy.

View full abstract

The long-term prognosis of 61 children with West syndrome, 48 alive and 13 dead, was investigated. The follow-up study was made in regard to psychomotor development and clinical seizure.
Fourteen cases (23%) showed normal or borderline mental development and 47 cases (77%) were mentally retarded. Twenty cases (33%) were normal in motor development and 41 cases (67%) were physically handicapped, with tetraplegia, hemiplegia or hypotonia. Twenty three cases (38%) were free from seizures and 38 cases (62%) had seizures of West syndrome, Lennox syndrome and other types of epilepsy. The patients free from seizures had good prognosis of not only mental but also motor development (P<0.001).
The final EEG records were obtained in 52 cases, and 8 cases (15%) showed normal or borderline EEG findings, nineteen cases (37%) showed focal abnormalities and 25 cases (48%) showed centrencephalic abnormalities. There was a significant correlation between the final EEG findings and the above mentioned prognosis. The prognosis was good in the cases of normal, borderline and focal abnormalities, and poor in the case of centrencephalic abnormalities.
Initial EEG findings gave little guide to etiology and final outcome of West syndrome. However, the cases showing centrencephalic abnormalities, even after the therapy for more than 3 months, had a poor final prognosis.
Factors influencing the prognosis of mental development were discussed. Mental prognosis of idiopathic cases was better than that of symptomatic cases (P<0.001). In the symptomatic group, mental prognosis was relatively worse in the cases of early onset under 3 months of age than in the other cases (P<0.005). In the idiopathic group, there was no correlation between the mental prognosis and the age of the onset. Early therapy within 2 months after the onset of the seizures was correlated with good mental prognosis in the idiopathic group (P<0.05). On the other hand, despite the early therapy, almost all patients of symptomatic group showed a subnormal mental development.
There was no significant difference between ACTH therapy and other anticonvulsant therapy for the final outcome, not only in the idiopathic group but also in the symptomatic group. It was not concluded that ACTH therapy should first be chosen in West syndrome.

View full abstract

Twelve infants with tense anterior fontanels and delayed clearance in RI-cisternography were studied. Neurologically these infants were divided into 3 groups: 4 damaged infants with mental retardation and/or cerebral palsy, with or without epilepsy, 4 infants whose motor development delayed and catched up later, 4 normal infants.
The tense anterior fontanels improved by 6 to 12 months, and its sizes were larger than mean value, more than two standard deviation in six cases. The head circumferences were larger than mean value in seven cases. Setting sun phenomenon, upper gaze palsy or papill edema was not observed.
Subdural taps were done on 3 cases and in two of them only 2 ml of the subdural fluid was obtained. Brain CT scanning was normal in two patients and borderline in three. Seven patients showed slight or moderate atrophy of convexities and intermispheric fissures, and four patients showed slight enlargement of lateral ventricles. Radioisotope cisternography revealed early ventricular reflux in eight patients, and asymmetric activity on the Sylvian cistern in seven. In all cases the effective half time was more than 24 hours.
These examinations excluded the possibility of subdural effusion or hematoma, communicating hydrocephalus and sinus thrombosis. Clinically one and four of our patients were regarded as megaloencephaly and benign intracranial hypertension, respectively.
Malabsorption of cerebrospinal fluid due to the damaged arachnoid villi was considered to be the basic defect in these patients. The pathophysiology was discussed in relation to benign intracranial hypertension or megaloencephaly.

View full abstract

In order to establish baseline numerical figures on white and gray matters and their developmental trend during the neonatal period and the infancy, mean CT numbers and standard deviations of white and gray matters were calculated on thirteen nonpathological scans with the Hitachi CT-H 250 which were obtained from thirteen newborns and infants ranging from 17 days to 11 months of age (8 males, 5 females). The loci selected for the calculation were the preventricular frontal area as a representative of the white matter, and the thalamus and the head of caudate nucleus as those of the gray matter. Each region had an area of about 43.6 mm² (36 pixels) except for the caudate nucleus where an area of abut 30.3 mm² (25 pixels) was covered.
The mean CT number of the white matter was low especially in the neonatal period, increased rapidly by 3 months of age, remained relatively constant afterwards, till eleven months of age. The mean CT number from the two regions of the gray matter showed a similar developmental pattern but the changes were less conspicuous compared with those of the white matter. The difference between the average CT numbers of white and gray matters and also their ratio were smallest at the age of 2 months (the ratio 112).
The correlation of developmental changes of numbers, with the structural and functional changes in the developing brain and the clinical implication of the findings were discussed.

View full abstract

This report described a 5-year-old Japanese boy with acute form of subacute sclerosing panencephalitis (SSPE). The initial symptom of the disease was right hemiplegia. Disturbance of consciousness appeared 7 days later, and the patient became comatose 14 days later.
At this stage, cerebral vascular accident or acute encephalitis was suspected, but the diagnosis of SSPE was made based on a high titer of measles antibody in the spinal fluid and suppression burst pattern of EEG. The diagnosis was confirmed by the typical histopathological changes of SSPE at autospy.
The patient showed a mild dysfunction of cellular immunity associated with thymus hypoplasia.
The initial lesion seemed to be dominant at frontal area by the repeated CT scan and EEG observation.
SSPE should be considered in differentiating the diagnosis of disease initiated with hemiplegia and rapidly fall in coma.

View full abstract

A 4-year-6-month-old boy was noted to have muscle wasting as well as weakness in the arms and shoulders at the age of 3 years. Muscle wasting was rather nonprogressive in contrast to its relatively abrupt onset. On the examination, he demonstrated symmetrical muscle atrophy in scapulohumeral distribution with remarkable looseness of the scapulas. On traction from the supine position with hands, a complete head-lag was noted because of severe muscle weakness of the neck, shoulders and arms. His mental state was normal. There was mild facial weakness, but no recognizable “myopathic” face. Tendon jerks were diminished except for normo-active ankle jerks. Neither sensory disturbance nor fasciculation was recognized. Serum CPK level was slightly elevated, while various chemical and immunological studies for polymyositis were negative. EMG showed positive sharp waves and fibrillation potentials at rest suggesting the neuropathic process, but without apparent reinnervation motor units. Motor conduction velocity was within normal limits. The biopsy specimen from the biceps muscle of left arm revealed neurogenic atrophy including a marked variation in fiber size withsmall groups of atrophic fibers consisting of mainly type 2 fibers.
Though there have been several cases with neurogenic muscular atrophy of facioscapulohumeral type in the literature, it seems quite unusual that the symptoms have started in the early childhood as seen in the present case.

View full abstract

Aplastic anemia occurred in two cases during anticonvulsant therapy for epilepsy. In Case 1, the causative drug was suspected to be phenytoin and in Case 2, one of three drugs; phenytoin, carbamazepine and ethosuximide or any combination of these.
The period of drug administration before the onset of aplastic anemia was approximately 8 months in Case 1 and approximately 22 months in Case 2. Discontinuation of the causative anticonvulsants and administration of prednisolone and oxymetholone was followed by hematological remission after 6 1/2 months in Case 1 and after 2 years and 3 months in Case 2.

View full abstract

This paper describes a case of 4-year-old phenylketonuric girl with high CSF levels of homocarnosine. The phenylalanine concentration in CSF of this patient was markedly high and the homocarnosine levels in CSF was increased about 7-fold as compared to the normal control value. Allen et al. And Van Sande et al. Reported the cases of phenylketonuria with high concentration of homocarnosine in CSF. However, the physiological significance of high homocarnosine level in CSF of phenylketonuric patients remains obscure. GABA as a neuroinhibitory transmitter may decrease by a metabolic disorder of homocarnosine as the GABA pool is affected by a high content of phenylalanine in the brain. Intractable seizures of this case may possibly be due to the decrease of GABA in brain.

View full abstract

A three-year and six-month-old girl was admitted to our hospital because of isosexual precocious puberty. She was a product of full term delivery weighing 3, 150 g. There was no past history of the central nervous system infection, head trauma or other serious illness.
She had well developed breasts with areola. There was sparse pubic hair at the genital region.
Deep tendon reflexes were slightly exaggerated but neither pathological reflexes nor ataxia were noted. Ophthalmological examinations were normal except mild bilateral optic atrophy.
Plain X-ray films of the skull showed a “J-shaped sella turcica”, thus suggesting suprasellar tumor. CT scan, however, showed two large solitary low density areas in the right middle fossa and the left occipital supratentorial region. These two low density areas showed the same density as CSF, and had a membranous structure around these lesions. According to these findings she was suspected to have congenital arachnoid cysts.
Subsequent operation confirmed the diagnosis. CP shunt were performed for each lesion separately. Fluid in these two cysts was watery clear and showed no inflammatory signs. Histopathological findings of the cystic wall were those of arachnoid.
Most of the reported cases of arachnoid cyst had single cyst in the middle or posterior fossa, and a few of them showed an isosexual precocious puberty.

View full abstract