What is it? Case 1, 1992: progressive gait deterioration, peripheral neuropathy, optic atrophy, bradykinesia, and dystonia in a young girl.
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Adolescent↗
Biomedical subjects
M L Grunnet
Publications and source records attributed to M L Grunnet.
Juvenile Leigh's encephalomyelopathy with peripheral neuropathy, myopathy, and cardiomyopathy.
A child with typical histopathologic changes of Leigh's subacute necrotizing encephalomyelopathy presented with a chronic demyelinating neuropathy. During her 11-year course, she developed an unusual myopathy and cardiomyopathy in addition to many of the previously described manifestations of Leigh's disease. Despite an extensive evaluation, the biochemical basis of her condition was never identified. This case demonstrates another unique constellation of clinical alterations associated with subacute necrotizing encephalomyelopathy, and that chronic demyelinating neuropathy can be an important initial presentation of the disease.
Biopsy↗
Muscle biopsy and the clinical course of infantile spinal muscular atrophy.
Eight infants with severe early infantile spinal muscular atrophy diagnosed by clinical presentation and muscle biopsy were studied. The extent of alterations in muscle histology, histochemistry, and ultrastructure did not reflect the relative severity of the clinical presentation or the course of the illness. In seven biopsies, ultrastructural studies demonstrated empty sleeves of basal lamina projecting from the surface of small myofibers. We conclude that severe infantile spinal muscular atrophy often results in myofiber atrophy similar to that found in other motor neuron diseases, and it is not solely a hypotrophic process. Muscle biopsy findings are important because they help to establish the diagnosis, but they do not help predict the severity of disease among infants with this condition.
Basement Membrane↗
An antibody to lymphotoxin and tumor necrosis factor prevents transfer of experimental allergic encephalomyelitis.
Uncertainty regarding pathogenic mechanisms has been a major impediment to effective prevention and treatment for human neurologic diseases such as multiple sclerosis, tropical spastic paraparesis, and AIDS demyelinating disease. Here, we implicate lymphotoxin (LT) (tumor necrosis factor beta [TNF-beta]) and TNF-alpha in experimental allergic encephalomyelitis (EAE), a murine model of an autoimmune demyelinating disease. In this communication, we report that treatment of recipient mice with an antibody that neutralizes LT and TNF-alpha prevents transfer of clone-mediated EAE. LNC-8, a myelin basic protein-specific T cell line, produces high levels of LT and TNF-alpha after activation by concanavalin A, antibody to the CD-3 epsilon component of the T cell receptor, or myelin basic protein presented in the context of syngeneic spleen cells. LNC-8 cells transfer clinical signs of EAE. When LNC-8 recipient mice were also treated with TN3.19.12, a monoclonal antibody that neutralizes LT and TNF-alpha, the severity of the transferred EAE was reduced, while control antibodies did not alter the disease. The effect of anti-LT/TNF-alpha treatment was long lived and has been sustained for 5 mo. These findings suggest that LT and TNF-alpha and the T cells that produce them play an important role in EAE.
Animals↗
Primary lateral sclerosis in a child.
Primary lateral sclerosis (PLS), previously undescribed in children, is characterized by a spastic motor deterioration and pathologic demonstration of corticospinal tract degeneration. We report an infant who, before 12 months of age, developed a progressive motor disease characterized by generalized spasticity. He died at 47 months, and neuropathologic examination revealed only corticospinal tract degeneration. We conclude that this child had typical clinical and pathologic findings for PLS.
Amyotrophic Lateral Sclerosis↗
Polymyositis with tubular aggregates.
We report a patient with classic idiopathic polymyositis who had tubular aggregates on muscle biopsy. Tubular aggregates are distinctly rare in polymyositis although seen in a variety of other muscle disorders including myopathies associated with muscle cramping. Our patient did not have muscle cramps or severe myalgia. Moreover, the patient's disease responded to steroids, indicating that tubular aggregates were not a marker for steroid resistance. The function of the tubular aggregates in this disease is not clear.
Biopsy↗
Effects of fetal insulin secretory deficiency on metabolism in fetal lamb.
Fetal insulin secretion may be of importance in determining both fetal metabolic rate and glucose homeostasis in the resting state. To investigate this question, streptozocin (STZ) was injected into 10 late-gestation fetal lambs, and the effects of STZ on fetal pancreatic insulin storage and secretion, fetal metabolic rate, and umbilical glucose uptake were then studied. Fetal STZ injection caused a relative fetal hyperglycemia by 24 h after injection. Fetal hyperglycemia reached a maximum by 72 h and persisted for at least 10 days after injection. Neonates delivered after fetal injection were frankly diabetic. Fetal STZ injection was associated with complete suppression of both glucose- and tolbutamide-stimulated insulin release, although no changes in peripheral insulin concentration were observed when compared with controls. Fetal pancreatic insulin content was only 13% of that expected on the basis of gestational age. In a subgroup of 7 STZ-treated fetal lambs, fetal hyperglycemia was related to decrements in umbilical venoarterial difference of glucose, umbilical glucose uptake, and glucose-O2 quotient. No changes in maternal glucose homeostasis or in fetal O2 consumption were noted. The data suggest that deficient fetal insulin storage and secretion are associated with a decrement in exogenous fetal glucose entry but not in fetal metabolic rate. Whether the observed fetal changes relate to enhanced endogenous fetal glucose production with a passive decrease in maternofetal glucose transfer or are simply due to a decrease in overall fetal glucose utilization is not known. It is speculated that a quantitative decrease in pancreatic insulin secretion is responsible for the observed changes.
Animals↗
Juvenile multisystem degeneration with motor neuron involvement and eosinophilic intracytoplasmic inclusions.
A case of juvenile multisystem degeneration with motor neuron involvement, possibly of familial type, showing many unusual clinical and pathologic features is reported. Eosinophilic intracytoplasmic inclusions were present in some remaining anterior horn cells and motor nerve nuclei of the brain stem as well as in a few neurons of the reticular activating system, the dorsal vagus nuclei, and the intermediolateral cell column. Smaller eosinophilic inclusions were seen in large neurons of the caudate nucleus and putamen, substantia nigra, and subthalamic nucleus.
Adult↗
Periventricular leukomalacia complex.
At autopsy in the past three years, a new complex of CNS lesions has appeared in 54% (50/93) of the brains of premature infant cadavers that have come from our neonatal intensive care unit. This complex consists of necrotizing lesions in the periventricular white matter and in the gray nuclei of the cerebral hemispheres, the hippocampus and subiculum, cerebellar folia and white matter, and basis pontis. This entity is called the periventricular leukomalacia complex, since the distribution of lesions is similar, yet much more severe, than that described by Banker and Larroche in 1962. Clinical studies have indicated that these lesions may be related to long periods of time at high blood oxygen or prolonged periods in which PO2 and pH fluctuated widely.
Cerebellum↗
Gomori's trichrome stain. Its use with myelin sheaths.
We report the use of Gomori's one-step trichrome stain as a method for staining myelin sheaths of peripheral nerves. The stain is simple to perform and allows myelin sheaths to be easily detected and evaluated.
Connective Tissue Cells↗
Primary malignant melanoma of the pineal region.
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Brain Neoplasms↗
Carbon monoxide-induced neuropathy in the rat. Ultrastructural changes.
The peroneal and ventral caudal nerves of rats exposed to 2,500 ppm CO until loss of nerve conduction occurred were studied by electron microscopy. Loss of normal axonal and Schwann cell structure was seen at the node of Ranvier. This loss was more prominent in large myelinated fibers, but was also seen in small myelinated fibers at seven and ten days postexposure. At this time, ventral caudal nerve conduction velocity decreased following a transient period of recovery lasting 9 to 13 days. Repair of the node began at 14 to 21 days postexposure, when maximal nerve conduction velocity had returned to normal. Complete normalization of node structure was not seen even 60 days after exposure, in many instances.
Animals↗
Cerebellar hemorrhage in the premature infant.
Lesions of the central nervous system were reviewed in 144 premature neonates without anomalies or infections coming to autopsy from the Intermountain Regional Neonatal Intensive Care Unit. Twelve neonates were found to have had cerebellar hemorrhages. Eleven of the 12 with cerebellar hemorrhage also had germinal plate hemorrhages at postmortem examination. Some hemorrhages destroyed one or both cerebellar hemispheres. Three of 19 (16%) infants between 20 to 24 weeks' gestation, six of 26 (25%) infants between 26 to 28 weeks' gestation, two of 24 (8%) infants between 28 to 30 weeks' gestation, and one of 19 (5%) infants between 20 to 32 weeks' gestation had cerebellar hemorrhage. No premature neonate after 32 weeks' gestation had cerebellar hemorrhage. It is probable that trauma does not play a role in the pathogenesis of the cerebellar hemorrhage.
Birth Injuries↗
Extreme toxicity from combustion products of a fire-retarded polyurethane foam.
The products from nonflaming combustion of wood and a trimethylol-propane-based rigid-urethane foam that was not fire-retarded produced elevated carboxyhemoglobin levels but no abnormal neurological effects. However, when this type of foam contained a reactive phosphate fire retardant, the combustion products caused grand mal seizures and death in rats. The toxic combustion product responsible for the seizures has been identified as 4-ethyl-1-phospha-2,6,7-trioxabicyclo(2.2.2.)octane-1-oxide.
Animals↗
Nuclear bodies in Creutzfeldt-Jakob and Alzheimer's diseases.
Nuclear bodies types I, II, III, and IV, as described by Bouteille, Kalifat, and Delarue, have been found in one case of Creutzfeldt-Jakob disease and one case of Alzheimer's disease. The relationship of nuclear bodies to viral disease in the central nervous system is not clear.
Adult↗
Teratoma of the spinal cord. Report of a case and review of the literature.
A 6-week-old infant had a teratoma that involved the entire spinal cord. No reports of another such extensive teratoma of the spinal cord can be found in the literature. We postulate that an embryonic rest was incorporated into the spinal canal and, when removed from its normal inducer tissue, grew haphazardly throughout the spinal cord.
Female↗
Morphometry of blood vessels in the cortex and germinal plate of premature neonates.
Germinal plate hemorrhage with intraventricular rupture has been a leading cause of morbidity and mortality among premature neonates. Because germinal plate hemorrhage decreases with increasing gestational age, germinal plate vessel size and/or structure may be an important etiologic factor. Electron micrographs of the cortical and germinal plate blood vessels from 13 premature infants ranging in age from 19-37 weeks gestation were studied; vessel, lumena, and endothelial areas were measured using a digitizing tablet. In infants between 25-32 weeks gestation, the germinal plate vessel and lumenal areas were significantly greater than the areas of cortical vessel and lumena. This finding suggests that one of the factors involved in germinal plate hemorrhage is described by LaPlace's law which states that the larger the vessel diameter, the greater the pressure on the vessel wall.
Basement Membrane↗
The effects of nortriptyline and mesoridazine on neurons and glia in vitro.
The ultrastructural changes produced by Mesoridazine and Nortriptyline in neurons and glia in vitro are reported. Concentrically laminated bodies (CLB) and increased numbers of dense bodies were produced by exposure to these drugs. The number and complexity of the CLB increased with increased dose and longer time in vitro and their formation appeared to be reversible.
Animals↗