Macrocephaly was defined as a head measuring larger than 98 th percentile. We have evaluated CT findings and head growth curves in 25 infants with large heads. Ten (40%) of 25 infants with large heads were normal developmentally and neurologically. Five (20%) of those were mentally retarded. The other 10 infants (40%) included hydrocephalus (4 cases), malformation syndrome (3 cases), brain tumor (1 case), metabolic disorder (1 case) and degenerative disorder (1 case). Their head growth curves were typed as (I), (II) and (III): Type (I) (excessive head growth curve to 2 SDs above normal); Type (II) (head growth curve gradually approached to 2 SDs above normal); Type (III) (head growth curve parallel to 2 SDs above normal).
Ten of macrocephaly with normal psychomotor development were studied clinically and radiologically in details. They were all male. CT pictures of those showed normal or various abnormal findings: ventricular dilatations, wide frontal and temporal subdural spaces, wide interhemispheric fissures, wide cerebral sulci, and large sylvian fissures. CT findings in 2 of those, which because normal after repeated CT examinations, resembled benign subdural collection. CT findings in one of those were external hydrocephalus. Head growth curves were obtained from 8 of those. Six cases revealed type (II) and two cases did type (III). The remaining 2 cases could not be followed up.
We consider that CT findings of infants showed macrocephaly with normal psychomotor development reveals normal or various abnormal (ventricular dilatations, benign subdural collection, external hydrocephalus) and their head growth curves are not at least excessive.
Infants with mental retardation showed similar CT findings and head growth curves as those with normal psychomotor development. It was difficult to distinguish normal from mentally retarded infants by either CT findings or head growth curves.
The present study suggests that it is important to know whether infants with large heads are normal or not so as to avoid unnecessary examinations in the future.

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Plasma concentrations of diazepam (DZP) and N-desmethyl-diazepam (N-desmethyl-DZP) were followed after a single rectal administration of DZP (0.5 mg/kg) to ten infants aged 5 to 23 months with febrile convulsions. Two types of preparations were used for the study; suppositories to 5 patients and solutions to other 5 patients.
Rectal administration of solutions resulted in a rapid increase in plasma concentrations of DZP. The therapeutic plasma levels (above 150 ng/ml) were attained within 10 minutes in all infants. The average peak concentration of DZP and the average peak time were 498.2±172.7 ng/ml and 0.20±0.18 hour, respectively.
On the other hand, DZP suppositories did not give the therapeutic level until 10 minutes to 1 hour after administration. The average peak time was 1.45±0.76 hours, which was significantly longer than that after rectal DZP solutions (p<0.05). The average peak concentration was 355.3±146.1 ng/ml, which was lower than that obtained from rectal solutions, although there was no statistical significance. However, the therapeutic plasma DZP levels were maintained for a longer period.
N-desmethyl-DZP appeared in plasma around 1 hour after rectal administration of both DZP preparations. Plasma levels of N-desmethyl-DZP continued to increase up to 48 hours.
One infant had a recurrence of seizure at 6 hours after the rectal administration of DZP suppository when the plasma DZP level was 119.6 ng/ml, which was below the presumed therapeutic range. No serious side effects were observed except for transient sedation in any patients.
These results may suggest that a single rectal administration of DZP solution (0.5 mg/kg) is effective for the treatment of acute seizures and for the prevention of recurrent seizures during the vulnerable period after the episode. The same dose of DZP suppository is recommended to the patients at home for the prevention of recurrent febrile convulsions.

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The effect of hyperosmolality on the midbrain reticular formation of rabbits was examined electrophysiologically. Hyperosmolality was induced in rabbits weighing 1.5-2.0 kg by continuous intravenous injection of 7% sodium bicarbonate (1666 mOsm/L) and continued until the death of the animal. An electrophysiological study was made of the effects of hyperosmolality on the unit discharges of the midbrain reticular formation (RF), photopalpebral reflex (PPR) and photo-evoked eyelid microvibration (MV).
1) The frequency of the unit discharges of the RF increased temporarily when the plasma osmolality was 300-310 mOsm/L, and then gradually decreased following the increase of the plasma osmolality over 310 mOsm/L.
2) The MV response induced by photic stimulation consisted of MV₁, MV₂, MV₃, MV₄ and MV₅ components. MV showed a decrease in their amplitude following the osmolality increase. But at a level of about 400 mOsm/L in plasma osmolality, the amplitude of MV recovered temporarily, though over 400 mOsm/L, it virtually disappeared.
3) PPR consisted of PPR₁, PPR₂, PPR₃, PPR₄, PPR₅ and PPR₆ components. The late components of PPR (PPR₅ and PPR₆) showed a decrease in amplitude following the osmolality increase and disappeared over 400 mOsm/L. PPR₆ showed a temporary recovery in amplitude at 400 mOsm/L in plasma osmolality, just like the MV.
4) The changes in the amplitude of MV and the late components of PPR following the osmolality increase were similar to changes of the frequency of the unit discharges of the RF and arousal reaction. Therefore it is considered that MV and the late components of PPR reflected the RF function.
From these results, it was concluded that the hyperosmolality induced a disfunction of the RF and the MV and PPR can be used as a test of the RF function.

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Plasma concentrations of pituitary hormones during sleep were measured in 6 patients with diencephalic tumor to study the control of the central nervous system over the physiologic secretion of pituitary hormones.
Only one case of pinealoma not involving the hypothalamus showed Growth Hormone (GH) peak of 10.5 ng/ml during the first slow-wave sleep. One case out one case out of six showed hypersecretion of Prolactin (PRL) during sleep, characterized by high basal values and excessive sleep-related augmentation. Normal secretion of Gonadotropin (Gn) during sleep was observed in 2 cases, secretory insufficiency in 3 cases, and hypersecretion in 1 ase.
The patients with hypothalamic lesions showed abnormal sleep-related secretion of pituitary hormones, particularly of GH. The sleep-related augmentation of GH was absent in patients with disturbance of consciousness.
The relationship between the central nervous system and the endocrine system was discussed.

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Cases of childeren with acquired aphasia with EEG abnormalities and epileptic seizures were reported by Landau, Kleffner (1957), Worster-Drought (1971), Shoumaker et al. (1974), and Suzuki et al. (1970). Two girls (9years and 5 years of age) with similar clinical manifestations are described in this report.
The patients developed aphasia at 3 years 6 months of age and 2 years 6 months of age respectively. No other neurological abnormalities were found. Their psychomotor development had been normal till the onset of aphasia.
In both cases spontaneous speech and receptive comprehension deteriorated gradually. Instead of sentences, they began speaking only in words, then only fragments of words, and finally they lost completely the ability to speak meaningfully. In spite of disturbances in receptive words-comprehension, they responded to phone calls, but spoke only in jargon. Anosognosia was also noticed in these cases. Their behavior was in general quite friendly, but sometimes the girls fell into hyperkinetic states and ill-humor. Intelligence was not impaired. The WISC nonverbal IQ was 155 in Case 1.
In the EEG, periodic high voltage sharp waves were seen bilaterally, especially in the light sleep stage. Clinically they showed akinetic seizure and generalized convulsion. Sodium valproate (200-400 mg daily) was effective on their seizures, hyperactivity and ill-humor. Their attention became more concentrated. In Case 1, the patient watched carefully the lips of other persons speaking to her. However, lipreading was not established in this case.
Subsequently, written communication was attempted. The written words of familiar objects were connected to lip movements of pronounciation. The patient's vocabulary increased quickly and she learned to write words taught through written words and pictures. But, in Case 2 the method described above has not yet been successful.
In both cases, epileptic seizures have improved, but aphasia has continued. It is important to note that the intensive anticonvulsive therapy and the learning by sign language (written language and gesture) was effective in this syndrome.

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A case of 8-year-old female with “Hereditary progressive dystonia with marked diurnal fluctuation” was described. She developed gait disturbance when she was 5 years old. With an increasing age, tremor, bradykinesia, and equinovarus feet developed. Her symptoms and signs were mild in the morning and worsened towards the evening to the night. On examination, CSF levels of HVA and dopamine were significantly reduced. She was treated with L-DOPA and showed a considerable improvement.
The abnormal dopmine metabolism in this disorder and the important role of dopamine in body movement were suggested. Increase and decrease of dopamine turnover during the day and the night have been recognized in animals. A gradual decrease of body movements during the daytime and a gradual increase of body movements towards morning were parallel to this daily fluctuation dopamine. Marked fluctuation of signs and symptoms of this disease was assumed to correlate closely with diurnal dopamine metabolism. On the basis of the observation of an alleviation of the symptoms by daytime nap and night sleep, an important role of sleep in dopamine metabolism was considered.

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There are few reports about the persistent elevation of serum CFK values and pathologic changes of peripheral nerve in periodic paralysis.
The patient had been in good health until age 12, when he suddenly felt a severe weakness of lower limbs and found himself unable to stand up and walk for a few days, but this episode disappeared spontaneously.
He was admitted to the hospital 7 months after the onset. The physical examination was not remarkable. The neurological examination revealed hypoactive patellar reflex.
The values of serum CPK were markedly and persistently elevated. There were no abnormalities in the values of serum electrolytes, GOT, LDH, lactate, pyruvate, renin, aldosterone and blood gas. Thyroid function was normal. The serum potassium levels were found to decrease to 3.4 mEq/1. during the attack. The potassium in erythrocytes was low compared to normal values, and became lower during the attack.
We examined biopsy samples of the peroneus brevis muscle and the sural nerve histologically. The muscle demonstrated hypotrophic type I fibers and angular fibers. Fiber necrosis, vacuolation and cell infiltration did not exist. On electron microscopy, a slight dilatation of t-tubules and some membrane-limited vacuoles communicated with several t-tubules were the additional findings. The sural nerve showed a slight decrease of large size myelinated, fibers in semi-thin transverse sections. Electron microscopic findings were the swelling of cytoplasma in some Schwann cells surrounding myelinated fibers and denuded axons.
Frequency of the attacks decreased gradually with the oral administration of potassium chloride and acetazolamide, though this case was supposed to be an atypical type of hypokalemic periodic paralysis. Moreover, the values of serum CPK were normalized by the steroid therapy (prednisolone 1 mg/kg) and subsequently the attack disappeared.

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A 10-year-old girl with moyamoya disease was reported, who presented Gerstmann's syndrome. She had developed numbness of the right upper limb from 9 years of age and was admitted because of amnestic aphasia and Gerstmann's syndrome following numbness of the right upper and lower limbs at 10 years and 10 months of age. Bilateral carotid angiography revealed obstruction of bilateral carotid arteries at the point that both posterior communicans arteries branched, and cerebral telangiectasis along the middle cerebral arteries. Brain CT scanning on the 12 th day after the onset revealed a high density lesion in the posterior temporal to occipital area on the left hemisphere. One week after operation of encephalo-duro-STA-synangiosis, all the symptoms disappeared.
Systemic neuropsychological examination was done ; intelligence test, Illinois test of psycholinguistic abilities, developmental test of visual perception, McCarthy scales of children's abilities, Bender Gestalt test and diagnostic test for reading disabilities. As the result, selective disabilities of visual fixation as well as constructive apraxia and spatial agnosia were demonstrated. Therefore it was suggested that the systemic neuropsychological studies were necessary to reveal a basic mechanism of Gerstmann's syndrome and also it was useful to find symptoms complicated with this syndrome.

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A 5-month-old girl was admitted to our hospital because of poor sucking, delayed motor and mental milestones, marked generalized hypotonia and ankle joint contracture. Her parents were cousins. Muscle weakness and hypotonia were generalized but were accentuated in proximal muscles. Prominent facial muscle weakness gave the ‘myopathic face’. External muscular atrophy or pseudo-hypertrophy was absent. Laboratory findings showed myopathic EMG, and marked increase of serum CPK, GOT, GPT, and LDH. Optic atrophy was evident. Diffuse symmetrical low density in white matter was demonstrated by computer assisted tomography. The above-mentioned clinical features and laboratory findings were compatible with those of typical Fukuyama type congenital muscular dystrophy (FCMD). However, the following findings were quite unusual in FCMD;
1. Rather active tendon reflexes till two years of age.
2. Histological findings including moderate variation in fiber size, type 1 fiber hypertrophy and only minimal endo-and perimysial fibrosis.

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Cleidocraniadl ysostosis (CCD) a, form of congenitalb one dysplasia, w as first reported by Marie and Sainton in 1898. They stated that it had four characteristics ; defective clavicles, abnormal ossification of cranial bones, imperfect growth of teeth, and the hereditary nature.
In Japan, less than 100 cases of CCD have been reported since Haneda reported the first case in 1933. We recently observed 3 cases of CCD, one hereditary and two isolated cases.
Case 1. A 49-year-oldm ale came to our hospitalc omplainingo f a continuoush eadachea fter havings uffered a head injury. A depression was observed on the patient's forehead. The patient stated it had been there since birth. There were no abnormalities in his past history. X-rays revealed a defective frontal bone and hypoplasia of the acromial ends of the clavicles. No other neurological abnormalities were found. A study of his family history revealed his mother, grandmother, elder brother, younger sister and two of his three children had similar depressions in the same area. His headache disappeared after medication and he is now leading a normal life.
Case 2. A 16-year-old male admitted with epilepsy was observed to have a soft forehead. He stated that elementary schooling had been delayed until he was 9 years old due to delayed physical development, and that he had experienced convulsions since pre-school days. X-rays revealed defects of the frontal bone, parietal bone, and both clavicles. He is now attending school regularly while undergoing medication with an anticonvulsant.
Case 3. A 10-month-old male infant came to our hospital with complaint of mid-frontal soft depression. He also had hypoplasia of acromial ends of the clavicles.
None of the three cases showed chromosomal abnormalities.

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