ABSTRACT
The case of a 59-year-old man who was diagnosed as having neoplastic angioendotheliosis by biopsy of a small hemangioma on the skin is reported. The clinical features were characterized by hypersomnia, memory disturbance, disorientation to time and mild left hemiplegia including the face. Laboratory findings showed an elevated erythrocyte sedimentation rate, increased serum LDH, increased CSF protein and pleocytosis in the CSF. The CSF level of IgG was also elevated and was associated with the appearance of oligoclonal IgG bands. The biopsy specimen of the hemangioma on the skin revealed that some small vessels were packed with atypical mononuclear cells which were positive for anti-B cell antibody. Magnetic resonance imaging (MRI) of the brain detected multiple lesions located in the cerebellum, thalamus and caudate nucleus. The left paramedian thalamic lesion might be responsible for his characteristic mood and behavioral changes. The serial MRI study disclosed that some lesions progressively enlarged and duplicated in number. These findings might be typical for neoplastic angioendotheliosis, in which the rapidly proliferating cells occluded small vessels one after another in the central nervous system. The serial study of MRI may serve an important diagnostic purpose in this disease, although most patients with this disease, so far, have been diagnosed by autopsy.
Subject(s)
Brain Neoplasms/diagnosis , Hemangioendothelioma/diagnosis , Brain Neoplasms/pathology , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Neoplasms, Multiple Primary , Skin Neoplasms/pathologyABSTRACT
We reported two infants with hydranencephaly and chronic hypernatremia. Their plasma sodium concentration gradually increased during the first week and remained between 150-160 mEq/L thereafter. They showed no signs of thirst. A water deprivation test demonstrated low urine osmolality and low plasma ADH concentration despite markedly elevated plasma osmolality in both cases. Urine was significantly concentrated when vasopressin was given. Thus, it was concluded that both thirst mechanism and ADH secretion were disturbed in these two cases. ADH producing cells, the thirst center and the osmoreceptor are all located in the hypothalamus. Radiographic measures showed dysplasia of the hypothalamus, providing the anatomical basis for their dysfunction.
Subject(s)
Anencephaly/complications , Hydranencephaly/complications , Hypernatremia/metabolism , Vasopressins/metabolism , Chronic Disease , Female , Humans , Hypernatremia/etiology , Infant, Newborn , Sodium/metabolismABSTRACT
The results of the first multi-institutional survey of the Rett syndrome in Japan are reported. The survey was performed during 1985 and 1986. Eighty-nine cases were collected, of which 54 cases were confirmed to have the Rett syndrome. The ages of the patients ranged between 1 and 26 years. The clinical onsets occurred after 18 months of age in 28 cases, and before the age of one year in 26. No familial cases nor consanguinity was found. The incidence of perinatal abnormalities among the patients was not significantly higher than in other diseases in which no perinatal factors are involved.
Subject(s)
Rett Syndrome/physiopathology , Adult , Age Factors , Child , Child, Preschool , Consanguinity , Demography , Female , Humans , Infant , Japan , Male , Maternal Age , Paternal Age , Rett Syndrome/complications , Rett Syndrome/epidemiologySubject(s)
Anti-Anxiety Agents/administration & dosage , Bromazepam/administration & dosage , Electroencephalography/drug effects , Epilepsy, Temporal Lobe/drug therapy , Spasms, Infantile/drug therapy , Dose-Response Relationship, Drug , Evoked Potentials/drug effects , Female , Humans , Infant , Infant, Newborn , MaleABSTRACT
Six patients with tuberous sclerosis were evaluated with computed cranial tomography (CCT) and magnetic resonance imaging (MRI). The results were assessed in comparison with the clinical severity of the disease. The brain lesions were shown by MRI as low-signal areas on IR images (T1 weighted sequences) and high-signal areas on SE images (T2 weighted sequences) Three patients, who had severe psychomotor retardation (DQ less than 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 greater than 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.
Subject(s)
Brain/pathology , Tuberous Sclerosis/pathology , Adolescent , Child , Female , Humans , Infant , Magnetic Resonance Imaging , Male , Prognosis , Psychomotor Disorders/diagnosis , Tuberous Sclerosis/diagnosisABSTRACT
The gene transfection technique was applied to establish clonal human skeletal muscle cell lines. DNA of a replication origin-defective mutant of SV40 was transfected into a primary culture of human skeletal muscle by the DNA-calcium phosphate co-precipitation method, and myoblast-derived cells were selected from among the transformed cells and cloned. The myogenic clonal cells exhibited an enhanced growth rate and an unlimited life span, which indicated that a stable supply of a large quantity of cultured human myogenic cells without contaminating fibroblasts was possible. In addition, despite the transformation, the transformed clones retained a certain differentiation ability, that is, they could form multinucleated cells or express a muscle-specific isomer of creatine kinase. These characteristics of transformed myogenic cells should be of great value in studies on the molecular pathologies of various myopathies.
