[Central nervous system complications of congenital myotonic dystrophy].
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Brain↗
Biomedical subjects
L E Becker
Publications and source records attributed to L E Becker.
An appraisal of the World Health Organization classification of tumors of the central nervous system.
An important development in the classification of tumors of the central nervous system was the nomenclature recommended by the World Health Organization in 1979. Since then, wide usage has suggested that the classification be modified to account for problems that neuropathologists have encountered. Although no classification is ideal, modification of certain tumor categories, particularly from the perspective of childhood brain tumors, is desirable. These are discussed in detail. Greater emphasis on standardization of the localization of brain tumors is also recommended. This appraisal suggests changes that will allow a consensus on nomenclature of central nervous system tumors so that a workable classification is the end product.
Brain Neoplasms↗
Revision of the World Health Organization classification of brain tumors for childhood brain tumors.
A classification for childhood brain tumors based upon revision of nomenclature of all brain tumors published by the World Health Organization (WHO) in 1979 is proposed. Applicability of the WHO classification scheme was tested in a combined study of the clinical and pathologic features of approximately 3300 brain tumors in children. It was found to be adequate for many of the neoplasms but unsuitable for a significant proportion, including a number of complex cerebral tumors for which there was no appropriate name. Nomenclature of poorly differentiated or densely cellular neuroepithelial tumors was simplified to reflect the current state of knowledge of neuroembryology and neuro-oncology, although the Committee members recognized that such a proposal would likely perpetuate the long-standing and continuing controversy relative to the nature and origin of these neoplasms.
Brain Neoplasms↗
The insensitivity of 99mTc pertechnetate imaging for Kaposi's sarcoma.
A total of 13 technetium 99m (99mTc) pertechnetate image studies were performed on 7 patients with a histologic diagnosis of Kaposi's sarcoma. Five patients with peripheral edema had diffusely increased radionuclide activity in the same areas. The two patients without edema had normal radionuclide images. The primary cutaneous lesions were only identified in one of the patients. These findings suggest that previously reported "occult metastasis" are probably due to peripheral edema in most patients; therefore, the radionuclide study has a much lower sensitivity than has been previously reported.
Aged↗
Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism.
We describe a family in which two adult sibs presented with a history of congenital nonprogressive myopathy, severe mental retardation and evidence of mild generalized weakness, short stature, musculoskeletal deformities, facial anomalies, sexual infantilism, and radiologic evidence of pituitary hypoplasia. The parents were first cousins. An excess of other, apparently unrelated, genetic conditions were present in other family members. Results of histochemical and electron microscopy studies of muscle biopsies from both affected individuals were compatible with multicore disease. This newly described syndrome likely is an autosomal recessive trait and appears to be the first reported association of multicore disease with mental retardation.
Abnormalities, Multiple↗
Scrotal and abdominal skin necrosis complicating intravenous vasopressin therapy for bleeding esophageal varices.
Two patients with severe liver disease developed scrotal necrosis after intravenous vasopressin infusion for bleeding esophageal varices. One of these patients also developed anterior abdominal wall skin necrosis. Although ischemic complications secondary to vasopressin are probably not totally avoidable, attention to hypovolemia, concomitantly administered pressor drugs, patient position, and points of local pressure may decrease the likelihood of these previously unreported complications.
Abdominal Muscles↗
Golgi and computer morphometric analysis of cortical dendrites in metabolic storage disease.
Golgi and computer morphometric analysis of neuronal dendrites was done on four cases, one each of Tay-Sachs disease, infantile type 2 sialidosis, Hurler's syndrome, and Sanfilippo's syndrome. There were large meganeurites on pyramidal neurons in Tay-Sachs disease, and small ones in Hurler's and Sanfilippo's syndromes. All the meganeurites in these three diseases were predominantly distal to the soma in layer 3, but close to it in layer 5. These findings may be accounted for by different rates of ganglioside accumulation and cortical neuronal morphogenesis. Computer morphometric analysis revealed atrophic or less developed layer 5 dendritic length and branching in Tay-Sachs disease, sialidosis, and Hurler's syndrome compared with tissues from control patients. These dendritic changes may be secondary to ganglioside accumulation or due to abnormal surface membrane production during dendritic development. This study contributes to an understanding of how enzyme deficiency is translated into abnormal cell structure and, presumably, function.
Cerebral Cortex↗
Developmental abnormalities of medullary "respiratory centers" in sudden infant death syndrome.
Dendritic development and gliosis in the medullary magnocellular reticular nucleus and solitary and dorsal vagal nuclei of 15 cases with sudden infant death syndrome (SIDS) and 23 control subjects were compared using morphometric Golgi and immunohistochemical methods. Developmental delay of the normal diminution of dendritic spines was found in the magnocellular reticular nucleus and/or vagal nuclei of 50 to 80% of SIDS infants. Astrocytes reactive with antisera to glial fibrillary acidic protein also increased in those regions, although dendritic spine density was inconsistent with the presence of astrogliosis in 20 to 40% of the cases. This delayed neuronal maturation of dendritic spines suggests there are immature neural respiratory control mechanisms in SIDS.
Dendrites↗
Chronic hypoventilation and development of brain stem gliosis.
Chronic hypoventilation is important in the pathogenesis of congenital hypoventilation syndromes and sudden infant death syndrome. Cases of hypoventilation can be divided clinically into those with a defective respiratory drive and those with mechanical impairment of either the lungs or the chest wall. To determine the relationship between chronic hypoventilation and brain stem gliosis, the development of astrocytes in the brain stem of normal and abnormal cases with either type of chronic hypoventilation was studied morphometrically. The glial fibrillary acidic protein immunoperoxidase method of staining astrocytes showed a transient increase of astrocytes in some parts of the brain stem during early infancy in thirty-five normal cases. The astrocytosis was even greater in both types of chronic hypoventilation including subjects with myopathy, Ondine's curse, and sudden infant death syndrome. Gliosis in these subjects may have resulted from "asphyxia" of the brain stem, as seen in cases with myopathies involving respiratory muscles. However, the involvement of brain stem respiratory centers may suggest a failure of neural respiratory control that further compromises respiratory function.
Astrocytes↗
Neuronal development in the medullary reticular formation in sudden infant death syndrome and premature infants.
Morphological and morphometrical development of the neurons in the medullary reticular formation was observed in control, sudden infant death syndrome (SIDS) and prematurely born infants, using Golgi stains. With increasing gestational age, in controls dendrites became long, spines increased and the distribution of spines assumed a mature pattern. The number of spines reached a peak at 34 to 36 weeks gestation and after birth it decreased rapidly. Term and prematurely born SIDS infants showed a persistence of reticular dendritic spines. On the other hand, ventilator-dependent prematurely born infants had decreased numbers of dendritic spines with thin dendrites and long, thin spines. Persistence of reticular dendritic spines in SIDS infants may suggest incomplete development to the mature, higher level of respiratory control. Spine abnormalities in the ventilator-dependent prematurely born infants may indicate secondary neuronal changes in the reticular formation.
Dendrites↗
Alexander's disease. A disease of astrocytes.
Alexander's disease is a rare and poorly understood cause of progressive neurological deterioration. Although the clinical history depends on the age group involved, the histological character and distribution of lesions tend to be uniform. The pathological features argue strongly that Alexander's disease represents a nonneoplastic disease of astrocytes. Numerous questions remain unanswered, including the factors responsible for the severity of the illness in the infantile group and the mechanism of demyelination secondary to astrocytic dysfunction. This series of 6 patients with Alexander's disease represents a wide spectrum of ages, enabling the pathological and clinical abnormalities to be related to a postulated mechanism of astrocytic dysfunction.
Adolescent↗
Basal ganglia calcification in Down's syndrome.
The basal ganglia from 33 patients (all over one year of age) with Down's syndrome were examined pathologically. Forty-five per cent had calcification. Basal ganglia calcification was localised to a constant area of globus pallidus and became more prominent with increased age. Calcification and amyloid degeneration of the adjacent blood vessels were present. The proximity of abnormal blood vessels to basal ganglia calcification suggests a pathogenetic relationship.
Adolescent↗
Supersensitivity to light: possible trait marker for manic-depressive illness.
Exposure to light during the night reduces plasma melatonin levels. A previous study showed that, in response to light, nighttime plasma melatonin levels fell twice as much in a group of acutely ill manic-depressive patients as in a group of normal subjects. The present study compares 11 euthymic manic-depressive patients not taking medications with 24 age- and sex-matched normal subjects. Melatonin levels in these patients also fell twice as much as the levels of the normal subjects, suggesting that supersensitivity to light may be a trait marker for bipolar affective disorder.
Adult↗
Abnormal mitochondria on a renal biopsy from a case of mitochondrial myopathy.
Mitochondrial myopathy (MM) is reported in a 5-year-old girl with short stature, hypotonia, ptosis, retinal pigmentation, and Fanconi's syndrome. A muscle biopsy showed the characteristic features of MM, and a renal biopsy revealed abnormal mitochondria in tubular cells that were similar to those seen in the muscle. This is the first report of such findings in association with MM.
Child, Preschool↗
Meningeal tumors of infancy and childhood.
Seventeen meningeal tumors were examined for pathology with electron microscopy and immunohistochemistry including glial fibrillary acidic protein (GFAP), S-100 protein, muramidase, and factor VIII. These tumors included seven meningiomas, one hemangiopericytoma, three meningeal sarcomas (1 pleomorphic-cell type and 2 myxofibrosarcomas), two fibrous histiocytomas, and four malignant melanomas. Two of seven children with meningioma had a poor outcome despite the benign histological features of the tumor. S-100 protein was present in the two tumors. All three children with meningeal sarcoma had a rapid downhill clinical course, although the myxofibrosarcoma initially had a relatively benign histological appearance. The two children with fibrous histiocytoma did well despite the aggressive histological features. Muramidase was a good marker of such tumors. Because of the morphological difficulties associated with childhood meningeal tumors, both electron microscopy and immunohistochemistry can be of diagnostic benefit.
Adolescent↗
Sudden infant death syndrome: increased carotid-body dopamine and noradrenaline content.
Carotid bodies from infants dying of sudden infant death syndrome contained significantly higher concentrations of dopamine (10-fold) and noradrenaline (3-fold) than those from age-matched control infants. Administration of dopamine inhibits respiration by direct action on the carotid body, and it is suggested that the elevated levels of endogenous catecholamines found in victims of sudden infant death syndrome may compromise the normal function of the carotid body, particularly the ventilatory response to hypoxia.
Carotid Body↗
Extracranial metastases in childhood primary intracranial tumors. A report of 21 cases and review of the literature.
A clinical and pathologic review of primary intracranial tumors (917 cases in a 62-year period) at The Hospital for Sick Children, Toronto, identified 21 cases with systemic metastases (2.3%). This included 15 cases of medulloblastoma and 1 case each of astrocytoma, meningeal sarcoma, malignant melanoma, ependymoblastoma, teratoma, and endodermal sinus tumor, adding to the pediatric literature of 94 previously reported cases (72 medulloblastoma and 22 cases of other brain tumors). Like adults, children with medulloblastoma tend to develop bone and bone marrow metastases, while those with other brain tumors frequently invade adjacent tissues, and then spread to regional lymph nodes and the lungs. The prognosis is almost uniformly fatal, although prolonged palliation could be achieved with radiation and/or chemotherapy. The pathogenesis of systemic metastases is related to breakage of the blood-brain barrier, whether at surgery, or with tumor invasion into vascular channels, and especially with preoperative systemic-cerebrospinal fluid shunting. Thirteen of 16 patients who developed systemic metastases, including 5 with peritoneal involvement, had ineffective or no millipore filters within their shunts, suggesting their possible prophylactic role against tumor dissemination. A greater understanding of the pathogenesis of systemic metastases may aid the design of future effective preventive measures.
Adolescent↗
Computed tomography in Alexander's disease.
Computed tomography demonstrated contrast-enhancing lesions in the periventricular frontal regions, caudate nuclei, and thalami in an infant with Alexander's disease. The distribution of the enhancing lesions corresponded to the areas in which Rosenthal fibers were most prominent. These radiological findings have not been described in other white matter diseases; thus, they may help to distinguish Alexander's disease from Canavan's disease and decrease the necessity for diagnostic brain biopsy.
Brain↗