To determine involvements of the brain stem and/or cerebellum in autism, we compared midsagittal magnetic resonance images of the brains of high functioning autistic children with those of normal controls. We found that the midbrain and medulla oblongata were significantly smaller in these autistic children than in the control children. The pons area did not differ between the two groups, nor was there any difference in the cerebellar vermis area. The ratio of the brain stem and cerebellum to the posterior fossa area did not differ significantly between the high functioning autistic and the control children. The development of the cerebellar vermis area was delayed in autistic children as compared with that in the control children. Thus, it was suggested that significant anatomical changes in the midbrain and medulla oblongata existed in the autistic children.

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The causes and time of onset of physical and mental disabilities in children were investigated. Among 72 subjects, the causes of the disabilities were clearly verified in 43 cases, that is, 21 cases of hypoxic ischemic encephalopathy (29%), 12 cases of cerebral malformations (17%), 7 cases of other congenital malformations (10%), and 3 cases of intrauterine infections (4%). In 10 cases from the remaining 29 subjects, the disorders during perinatal period were strongly suggested from the findings of CT and MRI.

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We studied the effects of the intermittent methylprednisolone pulse (IMP) therapy without the maintenance steroid therapy for 6 children with myasthenia gravis 3 cases with generalized type and 3 with ocular type. None of them was controled satisfactorily by oral steroid therapy or anti-choline esterase agents.
Two cases with generalized type and the other two with ocular type achieved remission by the initial pulse therapy, and were kept under good control by subsequent IMP therapy performed periodically or at the time of relapse. The other two cases could not be introduced to complete remission by the initial pulse therapy, but improved gradually by subsequent periodical IMP therapy.
The IMP therapy without maintenance of oral steroid therapy is more useful as compared with oral administration of steroids, in controlling myasthenia gravis and also in preventing side effects due to steroid therapy.

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From 1986 to 1992, we examined 73 patients with severely mental and motor retardation. The onset age of 82% of the patients was less than one year. The number of patients was 29 and 54, in 1986 and 1992, respectively. The etiology for 48 patients was congenital or neonatal diseases. All patients were unable to eat by themselves. Tracheotomy was made on ten cases. Eight patients were on home oxygentherapy. Twenty-one patients had the history of mechanical ventilation. Sixty-three patients had the history of hospitalization and their total number of hospitalization was 343. About a half of hospitalizations was for respiratory disturbance. The number of cases with long term hospitalization recently increased. Ten patients died, only one patient died of pneumonia. Unexpected sudden death occurred in three patients.

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Volume-selective proton MR spectroscopy (¹H-MRS) of the brain was performed on a 1.5 T magnet in 31 healthy children aged from 1 month to 15 years and one healthy adult. Peaks of N-acetylaspartate (NAA), choline (Cho) and creatine (Cr) were observed in all cases on ¹H-MRS, but not lactate. On 'H-MRS of the right parietal region, with advancing age, ¹H-MRS revealed an increase in the ratios of NAA to Cho and NAA to Cr and a decrease in Cho to Cr. The most rapid change was noted during thefirst one to three years of life. TI-MRS of the right frontal region was also performed in eleven cases. The ratio of NAA/Cho was smaller in the right frontal region than in the right parietal region. From this result, it may be suggested that the neuronal maturation in the frontal region delays as compared with the parietal region.

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Fourteen children meeting the NIH consensus diagnostic criteria for NF 1 were evaluated at the Department of Pediatrics, Himeji Red Cross Hospital. MRI and EEG were examined in all patients, respectively. Four of 14 patients had a history of epilepsy, two had suffered West syndrome, one had complex partial seizures and one had secondary generalized partial epilepsy. Seven (50%) of 14 patients showed abnormal MRI; three (75%) of 4 patients with epilepsy and four (40%) of 10 patients withepilepsy showed low intensity on T₁ weighted images and hyperintensity on T₂ weighted images in the globus pallidus and brainstem. These results suggest that children with NF 1 have a spectrum of MRI abnormalities, irrespective of existence of epilepsy.

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Isolated angiitis of the central nervous system (IACNS) is an extremely rare disorder in childhood. This report presents an 8-year-old female case of IACNS. She showed paresis at the right face and upper limb at the onset, followed by various focal neurological symptoms. Cranial T₂- weighted magnetic resonance imaging revealed multiple subcortical high signal lesions, which appeared and dissappeared in accordance with her clinical manifestations. The level of her plasma thrombin-antithrombin III complex (TAT) was high during the active phase of the illness and seemed to be a useful marker for the detection of vasculitis in the CNS. Complete remission was achieved by the combination therapy of prednisone and cyclophosphamide.

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A 13-year-old girl with multiple minor anomalies and severe mental retardation had recurrent episodes of severe vomiting. At each episode, marked elevations of plasma ADH, ACTH, cortisol and salivary type amylase were found with reduction of serum Na level and osmolarity. This case is similar to that with periodic ACTH- ADH discharge syndrome (Sato). However, she had underlying disease, and neither hypertension nor depressive state was observed. Latent SIADH was detected by water loading test. After DZP administration, ADH secretion was suppressed in this test, and actually the duration of each attack was shortened. We considered that her vomiting was closely related with hypothalamic dysfunction, especially latent SIADH.

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Chemotherapy with a combination of synthetic ACTH (ACTH-Zn) and valproic acid (VPA) induced remarkable hypofibrinogenemia in three children (5 months, 8 months, and 5 years and 10 months old) with intractable epilepsy. The lowest blood fibrinogen (Fbg) levels by this combination therapy were 22, 51 and 64 mg/dl (mean 45.7 mg/dk), respectively. These levels occurred, when ACTH-Zn was administered at an average dose of 0.33 mg/day (0.03 mg/kg/day) and the mean blood concentration of VPA was 59.7, μg/ml. With the administration of VPA without ACTH-Zn, the lowest blood Fbg levels were 232, 108 and 170 mg/dl (mean 170 mg/dl), respectively. The mean blood concentration of VPA was 109.0 μg/ml.
The inadvertent-effects associated with this combination therapy consisted of thrombocytopenia (59, 000/μl) in one case and a mild GPT increase (65-109 IU/l) in three cases. However, all these changes were transient. No bleeding tendency was detected clinically, when this hypo-Fbg-emia appeared.
The concentration of VPA and the blood level of Fbg were found inversely correlated with a correlation coefficient of -0.22 (p<0.01) in 150 serum samples from 91 patients with childhood epilepsy treated with VPA without ACTH-Zn. In the three cases presented, the combination with ACTH-Zn resulted in considerably lower blood Fbg levels than those predicted from the blood VPA concentrations. This indicates that the combination of ACTH-Zn and VPA induces a further decrease of Fbg in blood.
The reason why hypo-Fbg-emia results from this combination therapy is unknown. When the blood Fbg level was the lowest in one patient, the blood FDP content, which were measured simultaneously, was not increased. This suggests that hypo-Fbg-emia was caused by low Fbg synthesis rather than increased consumption.

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A case of Fukuyama-type congenital muscular dystrophy (FCMD) associated with hydrocephalus was reported. A 15-month- old male, diagnosed as FCMD at 4 months old, revealed progressing large head. CT scan and MRI indicated not only lissencephaly II classified by Dobyn, but dilated ventricular system and subarachnoid space, and these findings radiologically resembled those of brain atrophy. Intracranial pressure and CSF dynamics monitoring revealed high intracranial pressure and high CSF outflow resistance, indicating a high pressure hydrocephalus. V-P shunt made the patient improved not only symptomatically, but physiologically (increased CBF and decreased intracranial pressure and CSF outflow resistance). We concluded that the early diagnosis and treatment of hydrocephalus superimposing the organic disease may prevent secondary damage of the brain, and the intracranial pressure and CSF dynamics monitoring is essential for its diagnosis.

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We report a two-year-old boy with clinical Reye syndrome. Brain CT disclosed symmetrical low-densityareas in the pons and thalami, a part of which was recognized as being of high-intensity on both Ti and Ts weighted MRI. These lesions were suspected of being caused by vascular involvement, since the methemoglobin induced by bleeding may have contributed to the high-intensity regions. The lesions gradually disappeared within four months after the onset, and clinical symptoms also improved markedly without serious neurologic impairment.
This case was characterized by the marked improvement in neurological and radiological findings in spite of the serious neurological involvement at onset.

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Sequential examinations of single photon emission computed tomography (SPECT) were performed on a 5-month- old boy with acute infantile hemiplegia from the acute ictal stage. SPECT was performed with technetium-99m-hexamethyl-propylene-amineoxime during the status when the patient had left-hemiconvulsions (status epilepticus) and on the 3rd, 7th and 10th day after the status. During the ictal stage and the 3rd day after the status, diffuse hyperperfusion was revealed in the right hemisphere, while diffuse hypoperfusion was exhibited in the right hemisphere on the 7th and 10th day after the status. Hypoperfusion in the corresponding hemisphere, after the status, has been reported in patients with acute infantile hemiplegia. There has, however, been no report of ictal brain perfusion. The pathogenesis of this hyperperfusion is not clear, but alteration of brain perfusion in this patient, especially in acute phase, may help to elucidate the etiology of acute infantile hemiplegia.

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A seven-year-old boy with a 15p tetrasomy:[47, XY, +inv dup (15) (pter→q13:: q13→Ppter)] was reported. The clinical manifestation were as follows; infantile spasms, delayed development and slightly brownish coloured skin. But there were no other abnormal findings in neurological or physical examinations. This was the first case with 15p tetrasomy and infantile spasms.

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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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