Volumetric analysis of the human fetus cerebellum was conducted after morphological observation of complete serial sections of the brain. Brains were from eight fetuses (16-40 weeks of gestation), an infant (2 months old), and an adult (63 years old). No apparent congenital anomalies nor injuries were observed at autopsy.
During the fetal period, the cerebellum, especially the cerebellar cortex, increased markedly in volume, and the rate of increase (in volume) was relatively high compared with those of brainstem, ventricles, cerebellar medulla, and cerebellar nuclei. Before the 30th week of gestation, the volume of cerebellar medulla was larger than that of cerebellar cortex. The cortico- medullary volume ratio remarkably changed around this period. While the volume of the cerebellar nuclei increased slowly, their volume ratios to the whole cerebellum decreased slowly during the fetal period. In contrast, the volume ratios of individual nuclei to the whole cerebellar nuclei were almost constant after the 21st week of gestation.
The volumetric analysis deduces that the human cerebellum has a critical period around the 30th week of gestation during fetal development.

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We studied the clinical course and electrographic changes, especially, of rolandic discharges (RD), of 22 patients who satisfied strict criteria of benign partial epilepsy of children with centro-temporal EEG foci (BECCT). Each had been free of clinical seizures for two years or more and RD had already disappeared. Antiepileptic drugs were stopped in 15 cases. Two patients had a family history of epilepsy and 5 patients suffered from febrile convulsions.
Only 23 % of the cases became seizure free within a year from the onset. However, clinical seizures eventually stopped within four years in 91 % of the cases. The longest interval between the first seizure and the last one was 61 months. Even though the final prognosis was excellent, some patients showed therapy resistance at times during the clinical course with rather frequent clinical seizures. It was rare that seizures recurred after the two year seizure-free interval. RD could be seen after the last clinical seizure in 18 cases and there was a 29-month mean interval between the last seizure and disappearance of RD.
Antiepileptic drugs were discontinued in four cases although RD had been noted more than 24 months after the last seizure. However, RD eventually disappeared and seizures never recurred. It might be possible to stop antiepileptic drugs in BECCT even when RD can be seen if seizure has not occurred for a while.

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A detailed follow-up study from neonate to 4 years of age was made on a long surviving male case of glycine encephalopathy. The plasma, CSF and urinary glycine levels and the CSF to plasma glycine ratio were high; the plasma level ranged from 471 to 2, 572μmol/l and the CSF/plasma ratio from 0.048 to 0.168. The urinary organic acid analysis was normal without ketoacidosis. Erratic myoclonias, partial and tonic seizures and a suppression-burst EEG pattern in the neonatal period were compatible with the early myoclonic encephalopathy (EME). Subsequently these clinicoelectrical features developed to tonic spasms in series with asymmetric hypsarhythmia in early infancy and further to asymmetric tonic seizures with multifocal spike pattern, showing the transition with age. Evoked potential studies disclosed progressive prolongation of interpeak latencies of I - V and V, and a decrease in the amplitude ratio of V / I in ABR since the initial examination at 3 months of age, but no abnormality in flash-VEP. CT showed diffuse cortical atrophy at age 3 years, despite no abnormality in early infancy. Treatment with 85 mg/kg/day of pyridoxal phosphate temporarily reduced the plasma glycine level, accompanied by the disappearance of tonic spasms. Addition of diazepam (2 mg/kg/day) and carbamazepine transiently suppressed the remaining asymmetric tonic seizures with EEG improvement, but with no further reduction in the glycine level. Strychnine had some effect on hypotonia and dyspnea, but not on EEG and glycine level. At present, 4 years- and 2 months of age, he has severe mental and physical handicaps.

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Nephrogenic diabetes insipidus is an uncommon hereditary disorder in which the kidneys do not respond to vasopressin. This disorder has been cited as one of the cause of delayed psychomotor development. Only three cases of intracerebral calcification associated with this disorder have been reported.
We described a two- year- old boy with nephrogenic diabetes insipidus. His cranial CT showed intracerebral calcification which was located symmetrically in the basal ganglia ( putamen and globus pallidus ), and the frontal and the occipital lobes. His physical and psychomotor development was normal.
Though the mechanism of the intracerebral calcification is unclear, hyperosmotic vascular injury could be the first step of the calcification. In the present case, the influence of the intracerebral calcification on the course of this disorder could not be detected. Considering the long term outcome, however, the progression of calcification should be avoided.

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We report a mild case of female DMD with a balanced X-autosome translocation. The patient is 3 year old girl without any evidence of family history of DMD. Developmental history was that she held her head up by 3 months, rolled.over by 6 months, sat at 10 months and walked at 24 months. Her mental development had been normal between the age of 2 and 3 years, her calf muscles have been hypertrophic, but physical examination at 3 years revealed no muscle weakness. Diagnostic studies showed an extremely elevated CPK and muscle biopsy showed variability in fiber diameter, with degenerating and regenerating fibers, centrally located nuclei and increased connective tissue. Chromosome studies revealed an X-autosome translocation t (X ; 19) (p 211 ; q12 or 131) in cultured lymphocytes.
Females with DMD are rare. In such cases, DMD occur from non-random Lyonisation, that is, selective inactivation of normal X chromosome. Since Geenstein's report in 1977, 16 cases have been reported as female DMD with X-autosome translocation. In all published reports of affected female who carry an X-autosome translocation the breakpoint of the X-chromosome has been at Xp 21, although the autosome involved differs from patient to patient. It is concluded that the locus for DMD is at Xp 21 and, furthermore, that this site may be particularly suspectible both to chromosome breakage and exchange and to gene mutation.

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A 20-year-old man with atypical ALD was reported. He was healthy until the age of 9 years, when he developed the changes in character and behavior. Then psychomotor deterioration became manifested gradually, associated with frontal lobe syndrome, .pyramidal signs and epileptic seizures in the following 11 years.
He was diagnosed as ALD on the basis of elevated levels of very-long-chain fatty acids in plasma. Compared with the classical form of childhood ALD, he showed the characteristic features as follows; 1) onset with psychiatric symptoms, 2) low density in the frontal white matter on CT at the early stage, 3) frontal lobe syndrome and, 4) slow progression. We reviewed the eight cases of ALD with frontal involvements, previously reported, which showed rare visual involvements, slow progression, onset at late childhood, psychiatric symptoms and obscure neurological signs at the early stage. We defined them an atypical phenotype of ALD.

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An ultrastructural study on skin in a patient affected by infantile neuroaxonal dystrophy (INAD) was done to evaluate its diagnostic value and to discuss the etiology of INAD.
While 84% out of 100 terminal axons around intradermal glands were dystrophic, consisting of tubulomenbranous and tubulovesicular profiles accompanied sometimes by synaptic vesicles, there were only two dystrophic axons among 540 unmyelinated axons and no dystrophic myelinated axon in intradermal nerve bundles. These observations suggest that the primary lesion of INAD is in terminal and presynaptic axons and, therefore terminal axons must be investigated when a skin biopsy is performed as a diagnostic aidin INAD.

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There are many types of congenital malformation of the brain, and its diagnosis was made by postmortem examinations. The recent advent of computed tomography (CT scan), however, has made it possible to diagnose brain anomalies in living subjects. Pachygyria is a rare developmental malformation of the brain characterized by a few broad gyri and shallow sulci. This report presents a patient with pachygyria who had seizures before one year of age, microcephaly, micrognathia, carp mouth, hypotonia, motor retardation, and dysrhythmic EEG pattern with spike discharges. She was treated with ACTH-Z successfully, which could control the tonic seizures and EEG findings completely. In spite of the detailed descriptions of the clinical and neuropathological features of lissencephaly syndrome, there have been only few reports concerning EEG findings. In this case EEG and some evoked potentials were studied. Low amplitude of wave V in ABR and poor reproducibility in the short latency somatosensory evoked potential were shown, and the blink reflex elicited by photic stimulation indicated prolonged wave latency. It seems that these findings show existence of midbrain and thalamus dysfunctions.

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A case of juvenile Gaucher disease is reported. The patient, a female, was noticed to have hepatosplenomegaly at the age of 1 year, and was splenectomized at the age of 4. At 5 years of age, she suffered generalized convulsion and showed pyramidal tract signs, cerebellar ataxia, congenital oculo-motor apraxia, atypical absence attacks and myoclonus. Ictal EEG during atypical absence comprised 3.5-4-Hz generalized spike-wave complexes. Her signs and symptoms were compatible with lipidosis-type progressive myoclonus epilepsy together with other characteristics, as revealed by photoconvulsive responses and high-voltage somatosensory evoked potentials. Her myoclonus was exaggerated by intention and action, and was considered to have features of cortical reflex myoclonus.

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We reported an infant with infantile spasms, who developed signs of hypertrophic cardiomyopathy (HCM) and congestive heart failure during ACTH therapy. The diagnosis of HCM was established by echocardiography. After the discontinuation of ACTH therapy, signs of heart failure soon disappeared and myocardial hypertrophy on echocardiography improved within 18 months. ACTH administration induced the signs of HCM in our case, but its pathogenesis was not clear in our case as well as reported cases. This serious side effect of ACTH on HCM should be carefully prevented by serial echocardiography.

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Transient improvement was observed in two cases with West syndrome following Rotavirus colitis. Two infants (a 11-month-old boy and a 6-month-old girl) with symptomatic West syndrome had salaam convulsions with series formation and hypsarrhythmia on the electroencephalography (EEG). But salaam convulsions disappeared on the 5th day after the onset of diarrhea, and hypsarrhythmia was transformed into localized spikes on the EEG. Rotavirus antigen was detected by the method of reversed passive haemagglutination in the stool. Tonic spasms appeared again at the 16th and 30th day after disappearance of salaam convulsions.
Generally, the frequency of epileptic seizures does not decrease with an acute viral infection, and cases of decreased epileptic seizures following infectious disease have rarely been reported. The Rotavirus colitis is well-known as an inducer of seizures as well as exanthema subitum infection. The cases of West syndrome with clinical improvement following exanthema subitum infection have been reported, but such cases following Rotavirus colitis was none.
The pathogenesis of transient improvement in West syndrome following Rotavirus colitis was unknown. But it can be hypothesized that an immunological effect may be involved in the transient improvement of West syndrome following Rotavirus colitis.

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A 7-year-old male with recurrent bacterial meningitis was admitted to our hospital. CSF rhinorrhea and otorrhea were not found. The neurological examinations were normal. On skull and sinus radiography, routine cranial computed tomography and immunological evaluation, there were no diagnostic findings. Thin section (2 mm) direct coronal computed tomography revealed a transethomoidal encephalocele. Surgical treatment was performed. The post operative course has been excellent. A combination of RI cisternography and the insertion of cotton pledgets in the nose was very useful for diagnosis, identification and localization of CSF rhinorrhea, and for predicting the prognosis of surgical treatment.

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A case of galactosialidosis was reported. The patient was a boy, 3 years 5 months of age, referred for evaluation of cherry-red spots. No consanguinity was found in the family history. His growth and development were almost normal. He was operated on for bilateral inguinal hernia at the age of 4 months. At the age of 3 years, he was brought to our hospital because of strabismus and was noted to have cherry-red spots. On admission, physical examination revealed slightly coarse features with saddle nose, divergent strabismus, funnel chest and kyphoscoliosis of the lumbosacral region. Neurologically, no abnormal findings was noted, except for slight hypotonia and wide based gait. Laboratory examination revealed vacuoles of lymphocytes in the peripheral blood and bone marrow. Roentgenograms of the thoracolumbar spine showed kyphoscoliosis with anterior beaking of the vertebral bodies of lower thoracic region. The activities of neuraminidase and β-galactosidase were markedly reduced in the white blood cells and cultured skin fibroblasts, and were normal values in his parents. The reduced activities of neuraminidase and, β-galactosidase in the patient's cultured skin fibroblasts were corrected by culturing with concentrated extracts from the medium of normal cultured skin fibroblasts. From the analysis of immunoprecipitation and SDS polyacrylamide gel electrophoresis by using the anti β-galactosidase antibody, a 32-kilodalton glycoprotein was found to be deficient in cultured skin fibroblasts.

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[in Japanese]

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[in Japanese]

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