Three cases with petit mal absence attacks with secondary bilateral synchrony were presented. The interictal EEG showed unilateral focal epileptic discharges in the frontal area with normal background activity. The ictal EEG disclosed 3-Hz generalized symmetrical spike-wave patterns preceded by unilateral focal discharges, which were elicited by hyperventilation. None of the three cases had abnormal neurological findings or abnormal CT findings. All three cases had normal psychomotor development. One case had a history of febrile convulsions. The ictal manifestations were as follows; impairement of consciousness without any other signs in one case, with decreased posture tone in the second, and automatism in the third. The authors suggest that there can be petit mal absence with 3-Hz generalized spike-wave discharges induced by secondary bilateral synchrony.

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It is suggested that parasagittal cerebral injury in the asphyxiated full term infant may be common. However, parasagittal cerebral injury is rarely diagnosed in the neonatal period. It is said that cranial ultrasonography and CT scan are not useful to identify this lesion. Recently, it is considered that some of the intellectual deficits and behavioral problems in children at school age may have their origin in perinatal parasagittal cerebral injury.
We described a patient with parasagittal cerebral injury demonstrated by CT scan. Infants with neurological abnormalities which include weakness or abnormal muscular tone of proximal upper limbs suggest parasdgittal cerebral injury. CT scan obtained between 1 and 3 weeks of life is considered to be useful for the diagnosis. Early diagnosis and follow-up of parasagittal cerebral injury may lead to the understanding of frequency, prognosis and pathogenesis and to its prevention.

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Plasma insulin-like growth factor I (IGF-I) was measured in 23 severely handicapped children and compared with that in age-matched controls. Our 23 patients were poorly nourished and remarkably retarded in growth. Serum levels of total protein (TP), albumin (Alb), retinol binding protein and prealbumin in patients were lower than in controls. IGF- I levels in our patients (0.94 ± 0.72 U/ml) were very low in comparison with those in controls (1.82 ± 0.72) (p<0.01). But urine growth hormones were elevated in most our patients (61.4±51.7pg/mg·Cr) (p<0.005). When we divided 23 patients into two groups, the 10w and normal IGF-I group, the low IGF-I group was shorter than the normal IGF-I group. TP and Alb levels were also low.
Then we gave 10 patients supplementary protein (0.2-0.7 g/kg/day) for 10-20 days. TP and Alb levels rose in eight of ten patients; TP (g/dl) from 6.5 ± 0.3 to 7.2 ± 0.6 (p<0.005) and Alb (g/dl) from 4.0 ± 0.2 to 4.4 ± 0.3 (p<0.01). IGF-I levels (U/ml) rose in nine of ten; from 0.42 ± 0.33 to 0.68 ± 0.53 (p<0.005). We conclude that IGF-I is a sensitive marker of malnutrition and the nutritional therapy. And high levels of urine growth hormone suggest a normal growth hormone secretion in pituitary glands in most of our severely handicapped children.

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Dopamine β-hydroxylase (DBH) activity in cerebrospinal fluid (CSF) was determined to evaluate the noradrenergic activity in the central nervous system of hydrocephalic patients in the acute phase. Seven patients with hydrocephalus resulting from various causes and 7 control children without neurological diseases were subjected to this study. DBH activity was measured by high-performance liquid chromatography with electrochemical detection. DBH activity of control children, more than 5 years of age in our series, showed the similar activity of adult controls which was previously reported. Hydrocephalic patients revealed the higher DBH activity than controls (statistically significant, p<0.05). Sequential measurements of DBH activity in a case of herpes encephalitis revealed that its activity increased with the development of hydrocephalus and decreased after the treatment with repeated lumbar punctures. The present study suggests that the central noradrenergic activity is enhanced in the hydrocephalic patients in the acute phase.

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We evaluated the seizure-inducing factors in 264 patients with childhood epilepsy. One hundred and thirty-six patients (51.5%) exhibited some kind of inducing factors. Non-specific inducing factors were commonly recognized, such as “febrile state”(29.2%), “fatigue after exercise”(15.2%), “sleep disturbance”(9.1%), “psychic stress”(8.3%) and “emotional change”(6.8%). Specific inducing factors, which related to reflex epilepsy, was recognized in only 7 patients. “Febrile state” was dominant in young children, but the other nonspecific inducing factors were dominant in adolescent. Incidences and kinds of inducing factors also related to the epileptic syndromes an seizure prognosis. The patients with symptomatic partial epilepsies (64.3%) and grand mal on awakening (85.7%) had significantly more inducing factors, and the patients with refractory seizures had a higher incidence and more variable kinds of inducing factors than the patients with well-controlled seizures.
These results suggest that seizure-inducing factors are recognized in children as well as in adults, and the clarification of inducing factors is important to the management of epilepsy, particularly of intractable epilepsy.

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Magnetic resonance spectroscopy (MRS) is a useful tool for detecting in vivo metabolic status and in vitro analysis of chemical metabolites. We performed MRS on a 15 year-old mentally retarded male patient with recurrent myoglobinuria due to phosphoglycerate kinase (PGK) deficiency. Muscle histochemistry was normal, although electron microscopy showed a significant increase in glycogen content. Biochemical analysis using muscle specimens revealed profound reduction of PGK activity to 4.4% of the control mean. In vivo MRS using ³¹P revealed a significant accumulation of sugar phosphates after ischemic forearm exercise, although no significant rise of inorganic phosphate was demonstrated during exercise. ¹H MRS using the perchloric acid extracts of the blood taken at the ischemic forearm test, revealed no rise of venous lactate but a significant reduction of alanine levels. These data suggest that, unlike the patients with a glycogenolytic block, our patient with a distal glycolytic block shows a significant accumulation of sugar phosphates. The reason of the reduction of alanine levels was uncertain. A compensatory mechanism for energy supply to the muscle tissue was considered.

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From September through November 1990, an outbreak of hemorrhagic colitis associated with Escherichia coli O 157: H 7, occurred in a kindergarten in Saitama, Japan. Some of the patients suffered from neurological symptoms such as stupor, deep coma and/or convulsions in the acute stage, and/or action tremors, nystagmus, incontinence, phrenic nerve palsy in the later stage. Serum complements decreased more in the patients with neurological symptoms than in the patients without them. The verotoxin elaborated by E. coli O 157: H 7 was considered to cause the neurological symptoms, on the basis of their clinical courses and laboratory findings, especially the cerebrospinal fluid findings.

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Cerebral infarction in children is often caused by intracranial vascular disorder, cardiac disease, head injury, or infection, and is rarely induced by blood disease. In this paper, we describe an infantile case of cerebral infarction associated with thrombocytosis.
A female infant of eight months of age developed left hemiparesis after a slight head injury. Her CT and MRI demonstrated a cerebral infarction located from the right internal capsule to the right corona radiata. Laboratory findings revealed iron-deficiency anemia and thrombocytosis with a platelet count 107.5×10⁴/mm³. Although she had no disorder that had caused iron deficiency, serum Fe value of the patient was low with a count of 18μg/dl. Her bone marrow was normal except for a slight increase in the number of megakaryocytes. One month later, her anemia was improved by means of oral iron replacement. However, her platelet count remained at more than 100×10⁴/mm³ as it had been before. Her condition of left-sided hemiparesis gradually improved by a program of rehabilitation, and did not recur after aspirin administration.
Although the main cause of her thrombocytosis that led to a transient cerebrovascular accident is obscure, it is postulated that her iron deficiency anemia induced secondary thrombocytosis, or else the patient had essential thrombocytosis.

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A case of unusual Landau-Kleffner syndrome was reported. She was an 8 year-old girl and showed nonverbal agnosia, diffuse EEG abnormalities and convulsions. Her responses to both verbal and non-verbal sounds remained inconsistent and unstable. When a continuous spike-wave complexes on EEG was detected, she paid no attention to any sound in spite of her fair consciousness. Auditory brainstem response and magnetic resonance imaging of her brain were normal. Auditory agnosia was correlated well with EEG abnormalities, and valproic acid and clonazepam were effective for EEG improvement. After the EEG improvement, clinical responses to sounds recovered well; firstly she could pay attention to sounds and then she could distinguish between verbal and non-verbal sounds. Finally, she could speak a few wordsafter the learning letters.

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A case of tuberous sclerosis with congenital brain tumor was reported. The diagnosis was made on the basis of the pathological findings of subependymal giant cell astrocytoma, after surgery at the newborn period. After the neonatal period, the patient presented the classical triad of seizures, white spot of skin and mental retardation.
The exact nature of tumor-forming giant cells remains controversial. We studied the nature of these cells using immunohistochemical method. GFAP, S-100 protein and NSE stains were all positive. This result suggested that the tumor cells had the features of both neurons and astrocytes.

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We reported a 16-year-old boy suffering from dwarfism, diabetes insipidus and progressive cerebellar ataxia. The disease entity here reported was originally reported by Toyokura et al. in 1967, under the title of “progressive cerebellar ataxia with diencephalic symptoms”. Ten similar cases have been reported in literature so far, all of which were Japanese except for two sibling cases reported by Robinson et al. The topographic distribution of the lesion in this disorder, however, had been conjectured to be at spinocerebellar tract and diencephalon only on a clinical ground. By applying the modern techniques of neuroimaging, electrophysiological and endocrinological test in our patient, the authors were able to demonstrate the lesion of the disorder more precisely. CT and MRI of the head revealed degenerative changes in deeper structures of the bilateral cerebellar hemispheres. ABR abnormality suggested the presence of a wide lesion in the brain stem. Pituitary hormones (GH and ACTH) sufficiently responded to the loading of hypothalamic hormones such as growth hormone releasing factor and corticotropin releasing factor, in spite of poor responses of GH under the insulin stimulation or sleep. These clinical and laboratory findings suggested that the patient has a systemic degenerative disease which preferentially involves hypothalamus, brain stem and cerebellum.

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Lesions in the thalamus or basal ganglia have rarely been reported in acute disseminated encephalomyelitis (ADEM). We experienced 2 cases of ADEM, in which MRI showed lesions in the thalamus or basal ganglia. Case 1, a 4-year-old boy, had gait disturbance, hyperesthesia and hyperreflexia. MRI (T₂ weighted image) showed multiple high intensity areas in the right frontal lobe, bilateral parietal lobes and bilateral thalami. Case 2, a 4-year-old girl, complained of gait disturbance following a febrile episode, and displayed hyperreflexia. Several days later, she had visual disturbance of the left eye. MRI (T₂ weighted image) revealed multiple high intensity areas in the dentate nucleus of left cerebellum, left occipital lobe, bilateral caudate nuclei, and the anterior part of bilateral lenticular nuclei. In both cases, CT could not demonstrate these lesions. Both of them were treated with corticosteroid and recovered rapidly. They had no recurrence. MRI is useful in diagnosis and follow-up of ADEM and may reveal lesions other than cerebral or cerebellar white matters.

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The clinical and pathological features of siblings with infantile neuroaxonal dystrophy were reported. Early clinical symptoms were marked hypotonia in legs, mental regression and poor vision. Laboratory data were normal except for the mild elevation of GOT and LDH in serum and cerebrospinal fluid. MRI showed progressive atrophy of cerebellar vermis and brainstem. EEG showed a progressive increase in the amount and amplitude of the fast activities over the age of 3 years. Auditory brainstem response (ABR) showed progressive worsening with no response by 2 years and 6 months. Somatosensory evoked potentials (SEP) showed no cortical response by 4 years. Nerve conduction velocity (NCV) of both motor and sensory nerves was within normal limits. Pathologically, spheroid bodies were found in the axons of central and peripheral nerves, remarkedly in brainstem and dorsal column. MRI, ABR and SEP findings were clinically useful, suggestive of the degeneration of brainstem.

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