In order to evaluate the development of the CNS during infancy and childhood neurophysiologically, somatosensoryevoked potential (SEP) was studied in 158 normal humans, whose age ranged from 6 days to 35 years.
The median nerve was stimulated every 2 seconds with a disk electrode electrically. The stimulus intensity was adjusted about 10% above threshold in each case. SEP was obtained from the C-F lead of bipolar montage in the waking state.
There were 8 peaks observed, which were named N₁, P₂, N₂, P₃, N₃, P₄, N₄ and P₅ respectively. Another tiny peak was observed ahead of the N₁ in about 30% of the examinees. It was named P₁.
Although the number of the peaks was the same between the neonates and adults, the wave form was markedly different. Namely, the neonatal SEP possessed a large N₁ and a small P₂, while the adult SEP showed a small N₁ and a large P₂. After the newborn period, the wave form showed developmental changes continuously. The wave form became essentially the same as adults' form about at the age of 6 years.
The latency of N₁ decreased markedly during the first 4 months after birth, and to a lesser degree, during the subsequent 6-9 years. Thereafter the latency became prolonged gradually with age. Each peak latency between N₂ and P₅ decreased dramatically during 2-3 months after birth. This phenomenon suggested that SEP was a valuable method for the estimation of the developmental status of CNS during this period.
The peak to peak amplitudes were generally higher in children than in adults. The highest voltage in each amplitude was seen at various ages up to 6-9 years. Thereafter, all the amplitudes showed a tendency of decrease in voltage as the age increased.

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The average maximal blood velocity (A/L) and the end- diastolic blood velocity (d) of internal carotid blood flow were measured noninvasively by the Doppler ultrasound method in 35 normal children aged 2 to 6, and 106 children aged 2 to 16 with developmental disabilities including 79 cases with cerebral palsy, 19 cases with mental retardation and 8 cases with severe mental and motor disabilities.
Both A/L and d values in children with cerebral palsy were lower than those observed in normal children and this reduction was especially marked in severely affected cases. There was a reduction of both A/L and d values in mentally retarded children with IQ (DQ) of less than 25, but these values were normal in the cases with IQ (DQ) of more than 25. All children with severe mental and motor disabilities had markedly decreased A/L and d values in their internal carotid arteries.
This data suggests that mean cerebral blood flow decreases in children with cerebral palsy, severe mental retardation and severe mental and motor disabilities, and that the values of A/L and d, indices of cerebral circulation, are useful for assessment of severity of brain damage.

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Computerized tomography (CT) contributes significantly to the diagnosis of intracranial calcification (IC) as such is not visible on a plain skull X-ray. The correlation between IC and clinical features was investigated in children. The twenty-two patients with IC studied ranged in age from 5 months to 13 years and 7 months (the mean: 5 years and 6 months);12 were boys and 10 were girls. The findings of IC were classified into 7 types; type 1, extracerebral type; type 2-a, solitary hemispheric type, type 2-b, diffuse hemispheric type; type 2-c, multiple hemispheric type; type 3, periventricular type; type 4, calcification in basal ganglia; type 5, calcification in mid-brain. Clinical diagnosis, neurological findings, plain X-ray and EEG were studied as compared to CT findings.There were 3 cases with type 2-a, 2 with type 2-b, 8 with type 3, 4 with type 4, 5 with type 5 and no cases with type 1 and 2-c. Among type 2-a patients, one had astrocytoma and the etiology of the other two cases was unknown. In the former case, IC was observed on plain X-ray. In the latter 2 cases, calcifications were found in the hippocampus on CT and here the sizes remained unchanged for over 2 years; the clinical features were characterized by epilepsy, mental retardation, normal skin and ocular findings and focal spike discharge on EEG. Two patients with type 2-b also had Sturge-Weber disease. Diagnosis of all 8 cases of type 3 was tuberous sclerosis. All had convulsion and cutaneous abnormalities, and 5 were mentally retarded. Mild cerebral atrophy was noted in 2 cases. In only 2 was IC noted on the, plain skull X-ray. In the type 4 group, there were variations in the underlying diseases, pseudohypoparathyroidism (2 cases), spastic paraplegia (1) and renal failure with multiple anomalies (1). In the type 5 group, there were 1 with pinealoma and 4 with craniopharyngioma. All were characterized by visual disturbances. Convulsion and mental retardation were not observed. Plain X-ray showed IC and detraction of the sella turcica. The classification of intracranial calcification in this study should be useful for diagnosis and treatment of intracranial diseases in childhood.

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Lissencephaly (agyria) is a rare congenital brain anomaly characterized by a lack of apparent gyri formation. We reported previously a case of the lissencephaly syndrome. This paper presented a comparison between CT findings at the age of 5 months and neuropathological findings at 19 months.
The macroscopical examination showed smooth surface without cerebral convolution, incomplete sylvian fissure formation without operculum insulae, cavum septi pellucidi, enlargement of the lateral ventricles especially in the posterior portion, thicker white matter of frontal lobe than that of occipital lobe, thick cortex with poor demarcation between gray and white matter. These changes corresponded well to the findings in CT previously done; Therefore CT scan is useful for the diagonsis of this disease.
Golgi study revealed that there was a disorganization of neuronal disposition and developmental retardation or arrest of neurons, in addition to a maldevelopment of cortical cellular layers.
In the patient there was a history of acute exanthematous disease of her mother at 2 months of pregnancy. The patient showed hepatosplenomegaly with elevation of IgM and cytomegalovirus CF titer at 5 months, and chronic nonspecific infectious lesions with necrosis in lymphnodes, liver and submandibular glands at autopsy. These clinical and pathological findings may be considered to suggest that the intrauterine infection had caused the syndrome in this patient.

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The patient was a 3-month-old boy with generalized tonic and myoclonic seizures. His clinical course, therapy and laboratory data were reported.
1. By the parenteral CuSO4 therapy, darkening of the scalp hair, improvement of stridor, eczema and abnormal X-ray findings of bones, and normalization of serum levels of Cu and ceruloplasmin were observed. Transient and minimal improvement in CNS symptoms was eventually followed by progressive brain atrophy even at the time of improved laboratory data. Epileptic seizures were markedly improved transiently by l-DOPA, .
2. At the time of normalized laboratory data by CuSO₄ therapy, abnormal catecholamine levels (i. e., marked increase in dopamine and decrease in norepinephrine) in CSF were observed. Serum dopamine-β-hydroxylase (DBH) activity was undetectable at that time. These findings indicated a decreased DBH activity in the brain in Menkes' kinky hair disease.
3. The Cu content in necropsied organs was high in the gastrointestinal tract and low in the liver. The Cu content was normal in the cerebral white matter and high in the cerebral gray matter of this patient. These findings gave support to the hypothesis that Menkes' kinky hair disease is an intracellular disorder of Cu transport.

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The patient, a girl, was born prematurely at 37 weeks of gestation.
There was on family history of neuromuscular diseases. She had high-arched palate, ear deformity, and arachnodactyly. There was no spontaneous motor activity. No Moro or sucking reflex was present, and deep tendon reflexes were absent. She could not be weaned from the ventilator and died at five months of age.
Rectus femoris muscle biopsy was performed at the third month of age. The routine ATPase reaction differentiated two major fiber types. Type I fibers were smaller than type 2 fibers. In the diaphragm many rods were identified, which had a periodicity. An increase in the number of satellite cells, was demonstrated. A neuromuscular disease may be a cause of respiratory insufficiency in the neonatal period.

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A case of occipital dermoid cyst was presented, which looked like a encephalocele in naked eye appearance. This male baby was born after normal delivery, and no other anomalies were seen except for an occipital soft mass. It was a slightly relaxed spheric mass and its size was 6.5 × 6.5 × 5 cm in diameter. The base of tumor was slightly constricted. On the surface of tumor, hair was scanty, but covered with normal skin. Fluctuation was present. There was no pulsation or expansion on crying. Plain skull X-ray showed a small and round bone defect which was considered as a canal perforating the occipital bone obliquely and inferiorly in Towne projection. On CT scan, the fluid in the cyst showed almost same density as the cerebrospinal fluid in the ventricle. At the operation, a semi-translucent cyst wall containing slightly turbid yellowish fluid (90 ml) was found under the scalp. At the bottom of the cyst, there was small mass which contained hair and had the stalk extending into the epidural space through the bone defect. Histological examinations disclosed the dermoid cyst. While examining the huge occipital soft mass in a new-born baby, it is difficult to make a differential diagnosis either occipital encephalocele (meningocele) or dermoid cyst under the naked eye appearance or even by CT scan. However plain skull film of occipital encephalocele are usually characterized with relatively large and round bone defect at occiput. On the other hand, bone defect of the dermoid cyst at occipital area is small and runs obliquely and inferiorly. These plain skull X-ray findings would give a much help for the precise diagnosis of new-born occipital soft mass.

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The sibilings of Sanfilippo B syndrome (MPS III B) were reported.
The parents were the first cousins. The subjects were an 18-year-old girl (Case 1) and 15-year old-boy (Case 2) and their another sibling also had similar clinical signs and symptoms (propressive neurological disorders and dysostosis multiplex). Their early de elopments were only slightly retarded. Between 4 and 8 years of age, they developed gait disturbance, tremor, trunkal ataxia and seizures, and finally they became bedridden. They showed mucopolysacchariduria (mostly composed of heparan sulfate) and slight dysostosis multiplex, but organomegalies were absent.
The activity of N-acetyl-α-D-glucosaminidase was absent in leucocytes and cultured fibroblasts in Case 1, and markedly reduced in leucocytes in Case 2, but other lysosomal acid hydrolase activities were almost all within normal range. Peculiar coasely vacuolated cells were found in the bone marrow.
By electron microscopic investigation of a skin biopsy specimen, many membrane-limited vacuoles and a few inclusion bodies resembling membranous cytoplasmic bodies were demonstated in fibroblasts, lymphocytes andendothelial cells. In a few cells, many membrane-limited bodies filled with electron dense filamentous materials were also observed.
Urinary excretion of sialyl oligosaccharides was 2.5 fold higher than that in normal control. But the activity of acid neuraminidase (sialidase) of cultured fibroblasts was within a normal range in Case 1. The sialic aciduria of this patient was thought to be due to the secondary disturbance of the metabolism in sialic acid.

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Joubert et al. first reported a familial syndrome which showed episodic tachypena, abnormal eye movement, mental and motor retardation. Since then eighteen cases have been reported in the world .
In this paper, we reported a male baby with Joubert syndrome who was obserbed since the newborn period. He showed episodic tachypnea (respiratory rate over 100/min), apnea, severe mental and motor retardation, no normal eye movements, occipital meningocele, high arched palate and poor sucking. CT scan revealed vermian agenesis, hypoplasia and deformity of brainstem, enlarged fourth ventricle and cisterna magna. EEG showed episodic discharges. Laboratory test investigations including amino acids, lactate, pyruvate, ammonia, chromosomal analysis, IVP and renogram showed no abnormal findings. He showed poor development and at eleventh month of age he died at home because or respiratory arrest.
Similar syndromes were reported by Koya et al., Dekaban, Gardner et al., D'Agostino et al. and Friede. They reported syndromes consisting of abnormal respiration, abnormal eye movements, mental and motor retardation, occipital meningocele, retinal degeneration and polycystic kidney. Some causative events may have occurred at 6 to 7 weeks of gestation affecting central nervous system as well as other organs.

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