Six Cases of superior sagittal sinus thrombosis are reported. All cases occurred within two years after birth. They had a wide spectrum of clinical manifestations, including seizures, disturbance of consciousness, acute hemiplegia and intracranial hypertension. Neonatal polycythemia and dehydration were thought to be etiological factors. CT scan revealed massive brain edema with slitlike ventricles. Increased density of the torcular Herophili and straight sinus was demonstrated in two cases. The diagnosisof superior sagittal sinus thrombosis was confirmed in three cases by digital subtraction angiography, and in the others by routine cerebral angiography. It was concluded that DSA offered a definite advantage in the diagnosis of cerebral sinus thrombosis in neonates and infant.

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For the purpose of evaluating dysgraphia in learning disorders, mistakes in writing “hiragana”, the Japanese curved syllabary, were surveyed in normal elementary school children by the mistakes in their compositions. The achievement of hiragana writing developed rapidly up to the second grade and bcame slow thereafter. Diphthong (“tyouon”) and assimilated sound (“sokuon”) were difficult to learn for Japanese children as compared with postpositional particles (“joshi”). The extent of mistakes was not correlated with IQ of the children. These characteristics of development in hiragana writing in normal children will afford important information about the disturbance of handwriting in learning disorders.

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Magnetic resonance (MR) images in six patients with mucopolysaccharidosis (MPS), two with type IS, one with type II A, two with type III B, and one with type VI MPS, were reviewed and compared with reported pathological findings and with CT scans. We used a Picker International MR imager with a 0.5-tesla superconducting magnet. The pulse sequences involved the inversion recovery technique (TR, 2, 100 msec; TI, 600msec; TE, 40msec) for the T₁-weighted images and spin echo technique (TR, 1, 800 msec; TE, 120 msec) for the T₂-weighted images. The CT scanner was a Somatom 2 or DR3.
In the patients with type II A and type VI MPS, there were multi-focal lesions of various sizes that showed prolonged T₁ and T₂ in the white matter. These lesions, which were not detected by CT, seemed to be correlated with the pathological findings of cavitation and dilated periadventitial space with viscous fluid.
In the patients with type II A and type III B MPS, the T₂-weighted images showed a reduced contrast between gray and white matters, which may be related to the deposition of glycolipids and mucopolysaccharides in the lysosomes of the neurons and astrocytes of the gray and white matters. These findings seemed to be correlated with the clinical finding of mental retardation.
In the patient of type II A MPS, there were lesions that showed prolonged T₂ of the periventricular white matter, suggesting periventricular edema. But CT hardly detected these lesions.
In the patients with type I S MPS, no abnormal findings were found in MR imaging. It was concluded that MR imaging was far more sensitive for the detection of MPS lesions than CT, and was a useful method for differential diagnosis in MPS.

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The rigid spine syndrome is an unusual muscular disorder characterized bylimitation of the cervical and dorsolumbar spines, scoliosis, muscle weakness and flexion contractures affecting elbows and knees. Three patients meeting clinical criteria of the rigid spine syndrome were presented. We described clinical and laboratory findings, and histopathology of the biopsied muscles. Erector spine muscles showed low density changes in computed tomographic scans in patient 1, suggesting severe degeneration. It was concluded that the patient with the syndrome have limitation of the cervical and dorsolumbar spines. Patient 3 had atrial fibrillation apart from the symptoms of the rigid spine syndrome since the age of 22 years, and he died suddenly at the age of 31 years. The rigid spine syndrome with cardiac problem may not be distinguished from Emery-Dreifuss muscular dystrophy.
In patient 2 and patient 3, type 1 fiber atrophy and predominance were shown in the biop'sied muscles. In patient 1, muscle biopsy was carried out twice. Type 2 fiber atrophy was revealed at the first time, and type 1 fiber predominance was newly seen at the second time besides type 2 fiber atrophy.
The clinical and morphological spectra of the rigid spine syndrome are not always constant. Hence the syndrome perhaps may not be a single well defined disease entity.

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We presented clinical and biochemical findings of seven infants with Zellweger syndrome, a baby with peroxisomal 3-keto-acyl CoA thiolase deficiency and a baby with Zellweger-like syndrome whose clinical and biochemical abnormalities were similar to those of Zellweger syndrome, yet with peroxisomes detectable electronmicroscopically. These three types of peroxisomal disorders had some similarities in the clinical fea-tures, accumulation of very-long-chain fatty acids and dicarboxylic aciduria, but they were able to be distinguished by further measurements of activities and proteins of peroxisomal β-oxidation enzymes and of dihyd -roxyacetone phosphate acyltransferase, a peroxisomal enzyme with a major role in plasmalogen synthesis, and observation of peroxisomal structure.
Furthermore, in attempt to elucidate the mechanism of the pathogenesis of these disorders, we investigated the biosynthesis of enzymes of peroxisomal β-oxidation and peroxisomal membrane polypeptides using pulse labelling and chase experiments of fibroblasts.

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We reported a typical case of nonketotic hyperglycinemia whose earliest symptoms were respiratory distress, marked hypotonia and convulsions. In the neonatal period, the suppression-burst pattern was observed. The EEG changed to hypsarhythmia during early infancy. Respiratory distress disappeared by the intravenous administration of sodium benzoate. Strychinine was not effective against convulsions. Postmortem examination of the brain and spinal cord revealed spongy myelinopathy. The overall activity of the glycine cleavage system was found to be very low in both liver and brain.

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We reported a case of frontal lobe epilepsy which was considered to have evolved from Lennox-Gastautsyndrome (LGS). The patient was a 17-year-old male with severe mental retardation, and had suffered from LGS since the age of 7. Clinical seizures consisted of tonic seizure, head nodding and atypical absence. EEG showed 2.5 c/s diffuse slow spike wave complexes as well as rapid spikes during sleep However, clinical seizures disappeared at the age of 12 and at that time no more epileptiform activity could be seen on EEG. Seizure had been controlled completely for three years until it relapsed with impaired consciousness, stereotyped automatism and violent body movement. They occurred rather frequently but postictal confusion-al state was brief or almost absent. EEG showed ictal discharges starting from both frontal regions simultaneously and there were sporadic interictal spikes over the left frontal region. Any evidence of LGS could not be seen clinically or electrically. Taking these findings into consideration, seizures are most probably of frontal origin and we conclude that the patient now has frontal lobe epilepsy rather than LGS.
It is very rare for LGS to evolve into frontal lobe epilepsy and we suspect that secondary epileptogenesis is most probably the cause of this evolution.

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A five-months old Japanese boy showed clinically typical neurological features, periodic discharges on EEG and the low density areas in the temporal lobes on CT scan as herpes simplex encephalitis (HSE). Elevation of serum and C. S. F. anti- body titers by conventional methods such as CF, NT, and ELISA against herpes simplex virus (HSV) was not found even three months after the onset of HSE, but slight increasing of the serum titer was detected by more sensitive methods s-CRN. (slow reacting complement-requiring neutralizing antibody) Similar literature cases were discussed. Combination therapy of interferon 19 and acyclovir was given, but severe mental and motor retardation remained.

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[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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