We examined the clinical picture of eight patients with severe intellectual and motor disabilities, who had experienced prolonged and severe neonatal jaundice, and showed localized lesions in the globus pallidus, subthalamic nuclei and hippocampus on MRI. All patients had athetoid tetraplegia, and five patients showed disturbed ocular movements and seven showed dysphagia. Five patients could communicate with others or utter words, and all showed mental retardation. Auditory brainstem responses were abnormal in seven, and the percentage of REM sleep on all-night polysomnography was reduced in three. Neither CT nor T1-weighted MR images could detect any changes in the pallidum or subthalamic nuclei, while T₂-weighted MR images disclosed bilateral high signals in the pallidum, especially in the internal segment, in all patients. Five of the 7 patients, in whom coronal T₂-weighted MR imagings were obtained, showed high signals in the subthalamic nuclei. The hippocampus showed atrophy and/or T₂-prolongation in seven patieits. In one autopsy case, these MRI changes were concordant with pathological lesions. In patients with athetoid cerebral palsy, brainstem dysfunctions, and abnormal ABR, localization of MRI lesions to the pallidum and subthalamic nuclei is evidence for neonatal bilirubin encephalopathy.

View full abstract

The aim of this study is to analyze causes of severe brain damages of postnatal origin in children and to search for strategies to prevent them. The patients group consists of forty-five children with severe motor and intellectual disabilities sampled at several hospitals and special schools in a part of Tokyo. Twenty-four out of 45 cases (53%) were due to infectious diseases of the central nervous system (meningitis, encephalitis, and acute encephalopathy including Reye syndrome). Nine cases (20%) were due to brain damage related to medical services (complications of heart surgery, hypoglycemic encephalopathy, and so on). Accident- related brain damages accounted for 8 cases (18%) and 4 out of 8 were anoxic encephalopathy due to asphyxia (hanging and near drowning in two cases each).
We conclude that intensive prevention and treatment of infectious diseases and accidents in children can reduce large part of the incidence of postnatally acquired severe brain damages in children.

View full abstract

We examined auditory evoked potentials and passive event-related potentials in two patients with hydranencephaly. In the middle latency response, a Na component was observed in both cases. Mismatch negativity was elicited in response to tone bursts and three patterns of vowel sounds in Patient 1, and three patterns of vowel stimuli in Patient 2. These results implicate the subcortical components of the auditory system in the generation of mismatch negativity.

View full abstract

We investigated interleukin-1β(IL-1β), interleukin-6 (IL-6), tumor necrosis factor-α(TNF-α), and soluble TNF receptor 1 (sTNF-R 1) during the acute stage in the cerebrospinal fluid (CSF) from children with acute encephalitis by means of a sandwich enzyme immunoassay. We divided the 24 children with acute encephalitis into two groups: those who survived without neurological sequelae (Group 1, n= 15), and those who died or were left with sequelae (Group 2, n=9). The IL-1β, IL-6, TNF-α and sTNF-R 1 levels in CSF in the two groups were significantly higher than those in control subjects (n=23). The CSF sTNF-R 1 levels in Group 2 were significantly higher than those in Group 1. Our findings suggest that the IL-1β, IL-6 and TNF-α in CSF are related to the pathogenesis of acute encephalitis, and that the CSF level of sTNF-R1 during the acute stage of encephalitis is an important index for predicting the neurological outcome.

View full abstract

Moyamoya disease usually presents itself in children as recurrent episodes of transient cerebral ischemia, such as acute motor and sensory deficits, speech disturbance, headache and seizures.
Its initial symptoms rarely include mental disturbance. We experienced a nine-year-old girl with Moyamoya disease who showed choreic involuntary movements of the left upper and lower limbs. In spite of mental disturbance which began around the age of four, she had never visited hospital. CT and MRI detected multiple ischemic lesions in the frontal, parietal and occipital areas. SPECT demonstrated low perfusion of these regions as well as of the right corpora striata, which appeared to be normal in MRI. She underwent right and left superficial temporal artery-middle cerebral artery (STA-MCA) anastomoses with an interval of three months. The choreic movement completely disappeared but her intelligence showed no improvement. The cerebral blood flow increased, but there was no change in the infarction area.
Moyamoya disease should be considered in the differential diagnosis of mental disturbance in young children.

View full abstract

We report here a case of Duchenne muscular dystrophy (DMD) who underwent pacemaker implantation for complete atrioventricular block. This 30 year-old male had the deletion of exon 45-52 in the dystrophin gene and complained of palpitation and precordial oppression. Because his electrocardiogram showed complete atrioventricular block, a permanent pacemaker was implanted. He has been doing well for 15 months after implantation. There have been few reports about pacemaker implantation for patients with DMD. As these patients survive longer by mechanical ventilation with chest respirators or nasal intermittent positive pressure ventilators, an increasing number of cases may require pacemaker implantation.

View full abstract

We encountered a case of focal encephalitis. A 5-year-old boy developed high fever and he was admitted to our hospital on the third day with generalized tonic- clonic convulsions. Cerebrospinal fluid showed slight pleocytosis. CT showed diffuse low-density area in the left temporal, parietal and occipital regions. T₂ weighed MRI showed swelling and hyperintense regions in the left temporal, parietal and occipital cortex. With the disappearance of generalized convulsion, the cortical swelling improved. But aphasia and intractable complex partial seizures appeared. On MRI, the atrophic findings of the left hippocampus and temporal lesion became developed. We considered this case corresponds to focal encephalitis related to “a peculiar type of post-encephalitic/encephalopathic epilepsy” reported by Awaya et al.

View full abstract

We reported serial clinical, radiological, and neurophysiological findings of a patient with PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome. The case was a 4-year-and-8-month-old boy. He had no apparent problems during pregnancy, but after his birth severe hypotonia and developmental delay were evident. Infantile spasms appeared at 3 months of age, and progressive opisthotonic posture and loss of his visual acuity at 8 months. Eye fixation was lost, and optic atrophy was observed. Seizures and progressive atrophy of the cerebellum and brainstem developed during the same period. These findings of our case support the hypothesis that brainstem lesions are related to infantile spasms.

View full abstract

We describe a 3-year-old boy with subacute sclerosing panencephalitis (SSPE) who died 4 months after its onset. His initial symptoms were drowsiness and left hemiplegia. He became comatose in 10 days, and developed a decortical posture after 45 days.
He suffered from multiple cerebral hemorrhage and infarction 3 months later. Oligodendrocytes were positively stained by immunocytochemical stain with a complement-fixing measles antibody.
Light microscopy revealed glial nodules, perivascular cuffing and reactive gliosis. Small arteries showed intimal thickening with resultant occlusion and occasional recanalization. These findings suggested vascular involvement in SSPE. This case illustrates the difference between the fulminant and chronic forms of SSPE.

View full abstract

We reported a 10- year- old girl with acquired left oculomotor nerve palsy. Neurologic and radiological examinations failed to reveal the etiology. Following administration of corticosteroid and vitamin B6, diplopia improved within 6 weeks, and mydriasis has been improving over the past 9 months. Idiopathic acquired oculomotor nerve palsy is a very rare condition in childhood, and prognosis of the disease is sometimes good.

View full abstract

We report here an autopsy case of connatal Pelizaeus-Merzbacher disease, the second from Japan. Her clinico-pathological findings were essentially the same as those of the first case that we reported previously. The clinical course of this patient was 19 years in duration. Pathologically myelin had disappeared from the entire central nervous system, whereas that of the peripheral nervous system was preserved. Axons appeared also intact except for torpedo formation in the cerebellum. Demyelinated areas showed isomorphic gliosis. Recent studies have revealed impairment of proteolipid protein synthesis in classical Pelizaeus-Merzbacher disease, the causative gene of which being located on the X chromosome. Thus, this disease is inherited as an X-linked recessive trait. However we report herein a sporadic female case in a non-consanguineous family. Therefore, we propose that this disease might have another causative gene and/or another mode of inheritance.

View full abstract