1/27. Lipoid proteinosis. A case report.Lipoid proteinosis caused specific changes in the brain, larynx, and cervical esophagus of a young adult man. Laryngography clearly depicts the distribution and degree of pharyngeal and laryngeal pathology. Florid calcification, conforming to the classical temporal lobe distribution, is documented by plain films and tomography. The clinical picture and the pertinent literature are reviewed.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/27. Cytosome morphology and distribution of generalized ceroidlipofuscinosis in a twenty-eight month old boy with normal myeloperoxidase activity.A brain biopsy obtained from a twenty-eight month old boy with ceroidlipofuscinosis was studied by light and electron microscopy. There were widespread intracellular deposits of autofluorescent material taking the fat stains. Cytoplasmic inclusions were plentiful in neurons, astrocytes, oligocytes, M cells and vascular elements. Their substructure ranged from that of variably dense aggregates of essentially homogeneous or granular appearance to that of miscellaneous collections of lamellar pairs and/or tubular structures of variable length. Stacks of 2 to 4 linear profiles with a curved outline were rarely seen and then almost exclusively inside cytosomes of endothelial cells. Similar observations were made in peripheral nerve, skin and liver biopsies. The granules of peripheral blood neutrophilic leukocytes were unremarkable. A small percentage of lymphocytes contained granular cytoplasmic bodies not unlike those known to be an ordinary feature of some lymphocytes of the average blood sample. However, a certain resemblance between these bodies and some of the cytosomes seen in the patient's tissues was also apparent. Myeloperoxidase activity was tested with paraphenylenediamine and was found to be normal on two occasions. The patient's age, cytosome morphology and distribution and results of peroxidase assay add special interest to this case of generalized ceroidlipofuscinosis. However, none of these features, either singly or in combination, warrants creation of a distinct subtype within this group of disorders. Myeloperoxidase deficiency is probably just another phenotypical marker of some patients with generalized ceroidlipofuscinosis rather than the genetic defect of Batten disease.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
3/27. GM2-gangliosidosis, AB variant: clinico-pathological study of a case.Clinical and neuropathological studies of a case of AB variant GM2-gangliosidosis have been presented. The patient was a 14 months old black female infant who had "black cherry spot" in the retinas. The total activities of beta-galactosidase and N-acetyl-beta-hexosaminidase, as well as the proportion of hexosaminidase a and B components in her serum and leukocytes were normal when the assays were carried out with artificial fluorogenic substrate. diagnosis of GM2-gangliosidosis AB variant was established by an abnormal increase of GM2-ganglioside in the biopsied brain tissue, similar to classical tay-sachs disease. Her clinical manifestation appeared to be similar but somewhat milder than those of classical tay-sachs disease. light microscopic features of the cerebral biopsy were also closely similar to tay-sachs disease and sandhoff disease but gliosis and neuronal loss were less pronounced. Electron microscopic study revealed numerous membranous cytoplasmic bodies (MCB) and zebra bodies in neurons. In addition, varieties of large intracytoplasmic inclusions in astrocytes, a feature distinctly different from classical tay-sachs disease, were observed. Numerous cytoplasmic inclusions were also present in oligodendroglia, pericytes and microglial cells.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
4/27. Tumor- and drug-induced cutaneous neuro-phospholipidosis.Drugs and metastatic malignant tumors induce severe alterations in cutaneous axons. The most prominent ultrastructural feature of axonal dystrophy of this type was the presence of multiple lamellated osmiophilic bodies (LOB), similar to those occurring in hereditary disorders with increase of brain gangliosides and lipid storage. chloroquine, ergotamine, ethaverine and chronic abuse of non-narcotic analgesic drugs seem to be responsible for the drug-induced cutaneous neuro-phospholipidosis, whereas the same condition was found in two patients with metastatic bronchogenic carcinoma and malignant melanoma.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
5/27. Late-infantile neuronal ceroid-lipofuscinosis. An ultrastructural study of lymphocyte inclusions.Ultrastructural study of peripheral blood from two patients with late-infantile neuronal ceroid-lipofuscinosis with curvilinear bodies, demonstrated in brain biopsies revealed curvilinear bodies in lymphocytes. These findings indicate that ultrastructural investigation of circulating lymphocytes may be useful in the diagnosis of late-infantile neuronal ceroid-lipofuscinosis and may circumvent the need for brain biopsy. Curvilinear bodies were also present in the lymphocytes of a neurologically normal younger female sibling of patient 1, who has had a single seizure, leading to speculation that she may be in the early stages of the same disease. This case suggests the possibility of early detection of this disorder and indicates the importance of screening lymphocytes of siblings of affected patients. Tubular cytoplasm inclusions were present in a high percentage of lymphocytes of the asymptomatic parents and a younger sibling of these patients.- - - - - - - - - - ranking = 2keywords = brain (Clic here for more details about this article) |
6/27. Histological observation of the brain of tay-sachs disease with seizure and chronic DPH intoxication--report of an autopsy case.The patients was a 3-year-old boy with psychomotor retardation and attacked by seizures since 8 months of age. On funduscopy, the maculla presented a cherry-red spot. serum hexosaminidase a activities were as low as 8.2 percent. Both parents were carriers. The patient was diagnosed as classical tay-sachs disease by neurological examination. Diphenylhydantoin was continuously given for 2 years and 2 months till his death. autopsy revealed swelling of the cerebrum, atrophy and sclerosis of the cerebellum, hepatomegaly and mild enlargement of the lymph nodes. Histologically, the cerebrum showed ballooned swelling of nerve cells, slight gliosis and demyelination, while cerebellar Purkinje's cells and granular cells were degenerated and disappeared. The cerebellar cortex showed small focal spongy degeneration. By electron microscopy, membranous cytoplasmic bodies were found in the nerve cells. The change of brain observed in this case were interpreted as a combined result of (i) essential change to classical tay-sachs disease, (ii) ischemic change due to frequently repeated seizures, (iii) chronic toxicity by long-term anticonvulsant administration.- - - - - - - - - - ranking = 5keywords = brain (Clic here for more details about this article) |
7/27. Scintigraphic findings and follow up in erdheim-chester disease.Two cases of erdheim-chester disease are presented: a 26-year-old white male patient with lipoidgranulomatosis of numerous long and flat bones and infiltration of pericardium, pleura, liver, spleen, thyroid, skin, conjunctiva, gingiva, and false vocal cord; and a 54-year-old white male with involvement of bones, orbits, brain, pericardium, and retroperitoneum. The scintigraphic findings in this disease are described, and a comprehensive review of the 27 previously reported cases is given including an assessment of the value of scintigraphy for diagnosis and follow up of this rare disease.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
8/27. Corectopia and lipoid proteinosis.Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive disorder associated with deposition of hyalinised material in the skin, mucous membrane, and brain. Corectopia has not been described in this disorder. A case is presented of lipoid proteinosis with bilateral corectopia.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
9/27. ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome).ichthyosis and neutral lipid storage disease (INLSD) is a nonlysosomal, multisystemic, triglyceride storage disorder. It is characterized by nonbullous congenital ichthyosiform erythroderma (NBCIE), leukocyte vacuoles, and variable involvement of the liver, muscles, eyes, and central nervous system. In our patient fat-containing vacuoles were also demonstrated in the epidermis. In patients with NBCIE, the diagnosis of INLSD is readily made by direct examination of a peripheral blood smear demonstrating cytoplasmic lipid vacuoles within most granulocytes and monocytes.- - - - - - - - - - ranking = 8.4581878303918keywords = central nervous system, nervous system (Clic here for more details about this article) |
10/27. Dorfman-Chanarin syndrome. A case report and a review.Dorfman-Chanarin syndrome in two sisters of Jewish Iraqi origin is reported. This heritable disorder of the metabolism of neutral lipids was manifested by congenital ichthyosis, vacuoles in the leukocytes, and variable involvement of liver, muscle, central nervous system, and the auditory system. In two asymptomatic members of the family leukocyte vacuoles were found as the only sign of the syndrome. Clinical, pathologic, ultrastructural, and biochemical findings are described. Previous reported cases are reviewed.- - - - - - - - - - ranking = 8.4581878303918keywords = central nervous system, nervous system (Clic here for more details about this article) |
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