The nutritional status was assessed with physical and biochemical parameters on 39 severely retarded children and adults, 17 males and 22 females, ranging from 6 to 40 years of age. In the anthropometric measurements, a majority of the cases showed short stature, light body weight, decreased triceps skinfold thickness and decreased mid-upper arm muscle circumference. The analysis of serumamino acids showed decreases of the sum of essential amino acids, the sum of branched chain amino acids, the ratio of the sum of essential amino acids to the sum of nonessential amino acid, and the ratio of the [methionine tryptophan] to [valine lysine threonine]. The levels of prealbumin and transferrin in the serum were within normal limits. Other biochemical parameters were lower limits, including total protein, albumin, total cholesterol, triglyceride, phospholipid and total lipids in the serum. In addition, the level of fasting blood glucose tended to be low, and levels of serum free fatty acid were markedly different between before and after breakfast. These results suggest the presence of nutritional disturbances in most of severely retarded children and adults.

View full abstract

Progression of the lesions revealed by CT scan was observed in five girls with Rett syndrome. The most distinct and common finding was progressive dilatation of Sylvian fissures, frontal extracerebral space, interhemispheric fissure, and sulci mainly in frontal lobe. It may indicate progressive lesion in the frontal and the temporal lobes. In addition, dilatation of the anterior horns of the lateral ventricles and the third ventricle was noted in some cases. Brainstem and cerebellum were small at any age with somemorphological development as the patients became elder. Neither malformations nor abnormalities in density were found in any case. It is concluded that the main lesion of Rett syndrome on CT scan is progressive and localized in the frontal and the temporal lobes.

View full abstract

Eight cases of childhood cerebellar ataxia were reported. All these cases showed chronic cerebellar ataxia with early onset, and the other diseases of cerebellum such as infections, neoplasms and storage diseases were excluded by clinical symptoms and laboratory findings including blood counts, blood chemistry, lactate, pyruvate, ceruloplasmine, urinalysis, serum immunoglobulins, amino acid analysis in blood and urine, CSF analysis, leukocyte lysosomal enzymes, MCV, EMG, EEG and brain X-CT. Two pairs ofsiblings were included in this study. The clinical diagnosis were cerebellar type (5), spinocerebellar type (1), one Marinesco-Sjogren syndrome and undetermined type (1). The age of onset was 1 to 5years. The chief complaint was motor developmental delay in 6 cases; among them 5 patients could walkalone at the ages of 2 to 3 years'. Mental retardation was observed in 7 cases and epilepsy in 2. TRH was effective in 5 cases. The MRI study revealed that the area of medial sagittal slice of the cerebellum was reduced significantly in all cases and also that of pons was reduced in 5 cases. Different from typical adult onset spinocerebellar degenerations, most of the present cases have achieved slow developmental milestones and the clinical course was not progressive. Genetic factors are suspected in the pathogenesis of this disease in some cases.

View full abstract

Six patients with tuberous sclerosis were evaluated with computed cranial tomography (CCT) and magnetic resonance imaging (MRI). The results were assessed in comparison with theclinical severity of the disease.
The brain lesions were shown by MRI as low-signal areas on IR images (Tl weighted seque nces) and high-signal areas on SE images (T 2 weighted sequences)
Three patients, who had severe psychomotor retardation (DQ<70) and intractable epileptic seizures following infantile spasms, had many cortical and subcortical lesions. In the other three patients, intelligence was normal or slightly retarded (DQ or IQ >70) and epileptic seizures were well controlled, and small subependymal lesions were observed. Cortical lesions were rare.
These results indicate that MRI can detect more precisely intracranial lesions in tuberous sclerosis.

View full abstract

We developed a method of illustrating significant regional differences between two records of brain electrical activity mapping (BEAM), using pattern discrimination of autoregressive (AR) EEG analysis. In this study, the EEG data could be objectively reduced to a few AR coefficients, and this statistical method was successfully applied to discrimination of differences in BEAM among records from two or more subjects. A significant difference was illustrated at the right parietal region between two age groups, 6 years and 8 years, in normal children. It was concluded that this new approach of BEAM analysis through a statistical taxonomy was clinically useful for evaluation of the normal development of BEAM in children and for localization of functional brain abnormalities.

View full abstract

We reported two siblings of Leber's congenital amaurosis associated with increased level of very long chain fatty acid (VLCFA) in blood. Case 1, a 3 1/2-year-old boy had congenital blindness, severe psychomotor retardation, hepatomegaly, profound hypotonia, loss of deep tendon reflexes, muscular atrophy and weakness, and nonconvulsive status epilepticus characterized by a sudden respiratory failure, and also showed a flat electroretinogram, nonpigmentary retinal degeneration, severe atrophy of the brain stem and cerebellum, hepatic fibrosis, decreased motor and sensory conduction velocities and atlanto-axial instability. Sural nerve biopsy revealed severely decreased number of total myelinated fibers without remarkable demyelination or remyelination. Case 2, an elder sister of case 1, with pigmentary retinal degeneration, hepatomegaly and pericarditis had died at 3 months. Autopsy revealed hypomyelination and heterotopy of the cerebral white matter, hepatic fibrosis, renal microcysts and normal adrenal cytoarchitecture.
In case 1, the level of VLCFA was increased twofold and sevenfold of controls in serum and in red cell membrane, respestively. Phytanic or trihydroxycholestanoic acid was not detected in the serum and bile. Normal shaped peroxisomes were definitely recognized in biopsied liver by means of electronmicroscopic histochemistry.
From the above findings, these patients was thought to be a new variant of peroxisomal disorders relating to degradation of VLCFA, other than Zellweger syndrome, infantile Ref sum disease and infantile adrenoleukodystrophy. It was concluded that peroxisomal functions should be studied in cases of Leber's congenital amaurosis.

View full abstract

Recently the extra-intracranial (EC/IC) arterial bypass operation has been introduced in the treatment of Moyamoya disease and excellent postoperative outcomes have been reported. To assess the cerebral hemodynamic changes after the bypass surgery, ultrasonic Doppler flowmetry was performed in 10 children with Moyamoya disease. Their surgical treatments included superficial temporal artery-middle cerebral artery (STA-MCA) anastomosis or encephalo-duro-arterio-synangiosis. The flow velosity and pattern of the major cerebral arteries and STAs, the donor artery of the bypass, were studied both before and after the operation. The results of Doppler flowmetry were compared with clinical symptoms and angiographical findings. Though the Doppler sonographs of the major cerebral arteries showed little change, the flow velosity of the STAs revealed a pronounced and rapid increase after the bypass surgery. The flow pattern of the STAs, which was of the external carotid type preoperatively, changed to the internal carotid type postoperatively. These ultrasonic Doppler findings were thought to be due to a decrease in the peripheral vascular resistance, and suggested a good patency of the bypass arteries. These results of the Doppler flowmetry were in good agreement with clinical and EEG improvement and the findings of the postoperative cerebral angiography.
It is suggested that ultrasonic Doppler flowmetry is a noninvasive and reliable method of assessing the function of the EC/IC bypass in children with Moyamoya disease.

View full abstract

The cDNA probes for the Duchenne muscular dystrophy (DMD) gene can detect deletions in over 50% of affected males and provide a highly accurate diagnostic test in the affected families.
We present the results of our recent molecular genetic studies of five DMD families (six affected males and 16 non-affected family members) by using the dystrophin cDNA. Five molecular deletions were identified in the DNA samples of six affected males by studying abnormalities of Hind III and Bgl II fragments detected by the entire dystrophin cDNA. We could not find any abnormality in a family by the same DNA analysis. Deletion was found at two different loci ; in two of six probands, it was located near 5' region of the gene seen by cDNA segment 1-2 a, while in the other three, near the center of the gene covered by cDNA segment 8.
In three females of the five families, we detected novel fragments, the size of which was altered due to molecular deletion. These results greatly facilitated diagnosis of the carrier status in females.
We studied also the dystrophin location in the biopsied skeletal muscle (femoral muscle) in a family, by means of indirect immunofluorescence staining using antiserum against dystrophin. Dystrophin was positive in the surface membrane of muscles from a non-affected brother, mother and sister, but it was absent in the muscle from a DMD proband.

View full abstract

We reported a girl with mitochondrial encephalomyopathy, who had various neuromuscular symptoms including dilated cardiomyopathy, generalized convulsions, myoclonus, muscular weakness and growth retardation. Lactate levels in the serum and CSF were elevated. Muscle biopsy showed scattered ragged-red fibers, and complex I (NADH-CoQ reductase) and complex IN (cytochrome c oxidase) were markedly reduced. Although she was treated with coenzyme Q, DL-carnitine and sodium succinate, she died of progressive congestive heart failure at 9 10/12 years of age.

View full abstract

The usefulness of continuous intracranial pressure (ICP) monitoring and the correlation between ICP and electroencephalographic findings were investigated in a 6-year-old boy with acute encephalitis.
On admission he was comatose in a decerebrate posture. ICP was continuously monitored by the epidural transducer and controlled with hyperventilation, fluid resriction and administration of mannitol, glycerol and pentobarbital to keep below 20 mm Hg. The inotropic agents such as dopamine and dobutamine were also given to maintain the cerebral perfusion pressure (CPP) at 50 mm Hg or greater.
At the same time with ICP monitoring, EEG records were obtained with scalp electrodes at monopolar T₃-A₁ and T₄-A₂ regions according to the 10-20 international system on an analog tape simultaneously with a data recorder. The records were digitized at 50 samples/sec, and the high-order auto-regressive (AR) power spectrum was calculated with a minicomputer PFU-1200 (Fujitsu Co Ltd.). At pressures grater than 25 mm Hg in ICP, the total power of the high-order AR activity of EEG was apparently decreased. The results indicated that the AR power spectral analysis of EEG is sensitive method for obtaining valuable information regarding the electrical brain activity and intracranial pressure.

View full abstract

An 11-year-old girl with congenital myotonic dystrophy and infantile autism was reported. Her mother also suffered from typical myotonic dystrophy. Since her birth, the patient had been floppy, and showed bi-lateral talipes equinus at 1 year of age. Her subsequent psychomotor and speech development has been re - tarded. She showed autistic behavior and persistence to the sameness before 2 years old .
She was admitted to Sawarabien at the age of 10 years. She could not talk anything but could understand simple, oral messages. Although she had severe degree of mental retardation, her ability for matching figures was relatively well reserved. Her autism was so manifest that it could not be explained by the degree of mental retardation.
Neurological examinations revealed that she had facial diplegia, inverted V-shaped mouth, high-arched palate, talipes equinus, percussion myotonia of the tongue, generalized muscular atrophy and weakness, lordosis, areflexia, and congenital cataracta. The serum CPK was slightly elevated. EMG showed a myopathic pattern but did not show any myotonic discharge yet. The brachioradial muscle was biopsied and examined by light-and electron-microscopy. It mainly showed mild varieties of muscle fiber diameter and internal nuclei.
Ultrastructurally, irregularly indented central nuclei and perinuclear degeneration of myofibrils associated with secondary lysosomes, lipid droplets and glycogen granules were revealed. Ventricular dilatation and some dysfunction of the brain were also revealed by CT scan and EEG respectively .
The present case suggests that congenital myotonic dystrophy can be added into the disease group associated with infantile autism.

View full abstract

We reported a case of intracranial hemorrhage due to vitamin K deficiency in a 43-day-old male infant whose MRI findings were compared with CT findings. The infant was vacuum delivered at the 40th gestational week and Apgar score was 9 at 5 min after birth. He weighed 2, 750 g at birth and was breast-fed. His growth was normal after birth, but forty-one days after birth, the infant became febrile and vomited three times. Forty-two days after birth, right hemiconvulsions occurred and the infant vomited again. He was brought to our clinic forty-three days after birth, because cranial CT showed multiple intracranial hemorrhages.
On admission, skin color was pale, and the patient was somnolent. The anterior fontanel was bulging and tense. Neurological examination revealed right hemiparesis. Since laboratory data indicated that intracranial hemorrhage resulted from vitamin K deficiency, administration of vitamin K and blood transfusion were carried out. MRI examination was made three days after admission, and demonstrated a posterior fossa subdural hematoma as well as a left frontal subdural hematoma associated with intracerebral hemorrhage. Five days after admission, left frontal subdural hematoma was removed by left frontal craniotomy, and twenty-six days after the operation he was discharged without any neurological deficits.
In this case, MRI was very useful on the following points: 1) it showed clearly the presence of the posterior fossa subdural hematoma that could not be detected by CT, 2) a left frontal low density area which was considered to be a great amount of edema in CT was revealed to be a mixture of petechiae-hemorrhage and edema in MRI, and 3) multiple hemorrhages could be easily diagnosed by MRI.

View full abstract

[in Japanese]

View full abstract

[in Japanese]

View full abstract

[in Japanese]

View full abstract