Ninety-four children (eighty-three boys and eleven girls), who were delayed in verbal expression (expressive language less than two-thirds of the standard for their chronological ages) at the age of three years, were evaluated for school attendance and intelligence at the age of six. The Yamada's Check List for Language Development and Wechsler Preschool and Primary Scale of Intelligence (WPPSI) were used to assess language problems and the intelligence quotient (IQ). Thirty children (32%) were delayed in verbal expression only, and sixty-four (68%) were delayed in both: verbal expression and comprehension were less than two-thirds of the standard for their chronological ages. Of children with delay in verbal expression only, 36% of them had low full-scale IQs (less than 70), and 27% had required special tutoring. Of children with delayed development of verbal expression and comprehension, 85% had low full-scale IQs, and 89% had required special tutoring or had attended schools for mentally retarded children. In expressive and comprehensive language delay, forty-one children avoided personal relations at the age of three years. Later thirty of these children were diagnosed as suffering from infantile autism.
Poor mental outcome could be predicted by the delay of expressive and comprehensive language at the age of three years. The high prevalence of developmental disorders at later stages for the children in this study suggests the need for close monitoring of children with delayed language.

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We surveyed anomalies of the central nervous system using cranial CT scan in handicapped children who were institutionalized or staying at their homes. At the institutions for severely retarded children, fourteen cases were found and the rate was 6.1 %. All of them were very severely retarded. At the institution for physically handicapped children, 12 cases including 10 cases of hydrocephalus were found and the rate was 9.3%. Most of them could take care of themselves. Nineteen cases were foung among children staying at their homes and the rate was 9.4 %. Most of them were very severely retarded. We conclude that the anomalies of the central nervous system play an important role in the pathogenesis of handicapped children, especilly severely retarded children, and that the burden derives from them is a big problem in our daily clinic and special education.

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It is believed that one muscle fiber consists of one fiber type determined by its innervating neuron. In biopsied muscles of Duchenne muscular dystrophy (DMD), however, the author has incidentally found a double-typed fiber which is divided into inner and outer parts. The author termed it a “boiled-egg fiber”. The author has examined the appearance rate of the boiled-egg fibers on 682 biopsied muscles obtained from patients with various neuromuscular disorders, and classified the types of the inner and outer parts of the boiled-egg fibers by ATPase staining.
Boiled-egg fibers were recognized in 17 cases out of 60 with DMD, 5 out of 146 with other types of muscular dystrophy and 6 out of 94 with myositis. No boiled-egg fiber was found in the remaining 382 cases with other disorders which did not represent necrosis with regeneration of muscle fibers. The total number of boiled-egg fibers was 235 with 192 in DMD and 43 in other disorders. 197 of 235 (83.8%) had the same type for both inner and outer parts and remaining 38 (16.2%) had different types for their inner parts. In 133 of 235 (56.6%), the inner parts were type 2C fibers. Boiled-egg fibers were segmentally found with the length of several hundred micrometers.The above findings suggest that boiled-egg fibers reflect an abnormal regenerating process. It remains to be clarified whether or not inner and outer parts of boiled-egg fibers are double-innervated respectively.

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We studied a family with a myopathic form of complex I deficiency with regard to the clinical symptoms, usefulness of the exercise tolerance test with an ergometer for screening of mitochondrial abnormalities, pathological findings in biopsied muscles and genetics. In this family, none of the members had disorders of the central nervous system, such as convulsions, mental deterioration or stroke-like episodes. In the two affected generations, three mothers and three children had mitochondrial abnormalities. Two children were diagnosed as having complex I deficiency. One of them, an 8-year- old girl with normal psychomotor de - velopment during infancy, began to experience easy fatigability at about 3 years of age. At the age of 5 years, she experienced respiratory distress and became unconscious. Thereafter, she had similar episodic respiratory problems with lactic acidosis. Ragged-red fibers and respiratory chain enzyme defects were detected in the biopsied muscle. Another child, a 15-year-old boy with easy fatigability but no muscle weakness, had normal respiratory chain enzyme activities and a normal oxysogram oxygen consumption showed a normal responses when malate and pyruvate were added as substrates for the isolated mitochondria. His muscle pathology revealed rare ragged-red fibers and abnormal subsarcolemmal mitochondrial aggregation. An investigation with an ergometer showed elevated serum lactate and pyruvate levels. Only one mother had muscle weakness and hyper-lactic acidemia. The other two mothers had no muscle symptoms, but abnormal results were obtained with the ergometer. The above findings suggest that a diagnosis of mitochondrial myopathy should be made, taking into account all the clinical, biochemical and pathologic findings, and the present disease in probably transmitted through maternal inheritance.

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On the 1st of April in 1988, we identified 26 children with Fukuyama type congenital muscular dystrophy (FCMD) among 1, 227, 000 children in Tokyo whose ages ranged from 6 to 14 years. The prevalence rate of FCMD was 2.1 per 100, 000. All affected children attended special school for crippled child. Mean absence from school on account of illness was 33.9 days in a year.
Fifteen among 26 affected children had ability of verbal communication. The loss of gross motor function started at ages of 6 7 years but muscle weakness might have occurred earlier. Ten affected children were treated with antiepileptic drugs. Six affected children needed to be hospitalized for the treatment of vomiting with dehydration, acute bronchitis, or pertussis infection during one year until the 1st of April in 1989. Two cases among 26 with FCMD died of respiratory complicationshortly after admission.

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Plasma renin activity (PRA) and serum aldosterone concentration (Ald) were studied in 25 severe handicaps at the rest position. Sixteen cases (64%) showed increased PRA and/or Ald. In four cases treated with acetazolamide PRA or Ald was increased. After suspending this drug in three cases both PRA and Ald decreased significantly.
In patients with low-salt-diet (total Na intake ;<2 mEq/kg/day) PRA was higher than in those with normal-salt-diet (total Na intake ≥2 mEq/kg/day). Alb had no difference in two groups. Urine Na and Cl secretion in patients with low-salt-diet (49.1 ± 34.1 mEq/l, 43.5 ± 25.1 mEq/l) were remarkably low when compared to those in patients with normal-salt-diet (113.3± 71.3, 94.2 ± 56.3). NaCl supplementation in those patients with low-salt-diet for 5 days (total Na intake; 4 mEq/kg/day) resulted in normalization of their high PRA and Ald levels. This phenomenon revealed reversible since suspending NaCl supplementation again increased PRA and Ald levels. These results suggest that both low-salt-diet and acetazolamide play important role for renin secretion in severe handicaps.

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Of 5, 218 patients who received EEG examination at our laboratory during a 9-month period in 1989, 241 showed the 7-13 H_z arch-shaped activity originating from over the Rolandic area known as mu rhythm. These subjects were divided into two groups as follows: Group 1, 171 subjects showing typical mu rhythm, i. e., recorded during wakefulness and not affected by visual stimulation but blocked voluntary movements or tactile stimuli ; and, Group 2, 70 subjects showing atypical mu rhythm, i. e., accentuated or activated by drowsiness, photic stimuli, or hyperventilation.
No difference between the two groups was found with regard to frequency, amplitude or origin of the mu rhythm. Age distribution for Group 1 showed a peak between the ages of 6 and 15 (67.5 %), while that for Group 2 peaked between the ages of 11 and 15 (35.7%) considering high incidence in older age range. There was no significant difference between the two groups in regard to gender. Although both groups showed a high incidence of epilepsy, Group 2 showed higher incidence of intractable epilepsy (p<0.05), as well as of severe intracranial trauma and of organic brain disease. On EEG recorded among epileptic patients, paroxysmal discharge was more frequent in Group 2 (p<0.01), although no other difference between the two groups was observed. Atypical mu rhythm may indicate more severe epilepsy, and careful observation of patients with atypical mu rhythm is recommended.

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Twenty-seven children, who had deep white matter hyperintensity in the occipital lobe (DWMH) on T2-weighted MRI, were classified into two groups, mild and severe, based on the signal intensity. The frequency of mild DWMH, which was iso-or hyperintense relative to the gray matter but hypointense relative to cerebrospinal fluid (CSF), decreased with aging ; mild DWMH might result from a delayed myelination inthe central nervous system. However, the frequency of severe DWMH, which was iso-or hyperintense relative to CSF, was not related to aging and was significantly high in severely retarded children. Therefore, severe DWMH might be a new indicator of mental retardation in children.

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Prevalence rate and pattern of disabilities were studied in severely mentally and physically handicapped children in school age in Yokohama. We visited institutions and schools for retarded children in Yokohama and its neighborhood or made contact with them by telephone. The study disclosed a total of 192 children on May 1, 1988. Prevalence rate was 0.51 per 1, 000. Patterns of disabilities were ;
1) most of the children (94.8 %) lived with their families.
2) eighty-eight percent of the children attended to school for retarded children.
3) about twenty percent of the children who attended to school needed tube feeding.

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Thirty-three severely handicapped patients were investigated on body temperature regulation by rectal temperature monitoring and hypophysial hormonal function. The lowest body temperature in the day in the cases with handicaps of prenatal onset tended to be lower than that of peri or postnatal onset. This finding suggests that different causes make regulation disturbance of body temperature in handicapped children.
On the other hand, low urine osmolarity in the morning and irregular menstruation were recorded suggesting hypothalamic dysfunction in poor regulation cases.

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A 13-year-old girl developed subacute sclerosing panencephalitis (SSPE) with atypical absence attacks as an initial symptom. Eight years earlier she had been treated for acute lymphocytic leukemia with cytotoxic treatment and radiotherapy, which had resulted in complete remission.
She was first treated with an anticonvulsant because the atypical absence attacks and the presence of epileptic discharges on an EEG suggested epilepsy. However, with this mode of treatment the epileptic discharges did not disappear, but periodic high-voltage slow-wave complex discharges were revealed on subsequent EEGs. The antibody titer for measles virus in the cerebrospinal fluid and serum was elevated, confirming the diagnosis of SSPE.
SSPE may arise, though rarely, in an individual in an immunosuppressive state due to congenital immunodeficiency or various kinds of malignancies, and also may arise several years after the contraction of measles infection.
Our patient, however, lacked a past history of measles infection or immunization, suggesting the possibility that she had contracted measles during or shortly after the course of treatment for ALL.

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A 5-year-old girl with Wyburn-Mason syndrome was reported. A vascular nevus on the right cheek was noticed since early infancy. External strabismus and impaired vision of the right eye were noticed at 5 years of age. Fluorescein angiography showed an arteriovenous malformantion on the right retina. Brain CT, MR, and right carotid angiography demonstrated an arteriovenous malformantion from the orbita to the hypothalamic region along the optic nerve.
This congenital vascular disorder is extremely rare.

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A 10-month-old male infant (case 1) and another male infant aged 1 year and 11 months (case 2) were admitted to our department because of fever, watery diarrhea and convulsion. On admission, they were unconscious and showed rigidity of the limbs. Laboratory examination revealed a marked increase in GOT and GPT, a decrease in platelet and antithrombin III and an increase in FDP. Metabolic acidosis was found by blood gas analysis. Brain CT showed an extensive area of low density in case 1, and low density centering on the cerebral basal ganglia and brainstem in case 2. Rotavirus was detected in case 2 by fecal examination. The clinical pictures in these cases closely resembled those of hemorrhagic shock and encephalopathy (HSE) reported by Levin et al. in 1983. The etiology of this disease is currently unknown, and its prognosis in poor. The relationship between this disease and rotavirus should be examined in future studies.

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