1/8. MR imaging of the brain in five members of a family with pelizaeus-merzbacher disease.MR imaging was performed in five members of a family afflicted with pelizaeus-merzbacher disease. The individuals imaged included a male proband, his mother, and three maternal uncles. Clinically affected members showed generalized white matter signal aberration consistent with dys- and demyelination, basal ganglia, and thalamic signal aberration suggestive of pathologic iron storage and diffuse brain atrophy. These findings are similar to those seen in other leukodystrophies. The proband's mother was normal by neurologic examination but showed a suspicious but not definitely abnormal similar pattern of basal ganglionic and white matter signal aberration. In our limited patient sample, MR appears to be able to: (1) demonstrate a pattern of imaging abnormalities characteristic of pelizaeus-merzbacher disease (we do not know if this pattern is specific); (2) potentially detect the obligate carrier state; and (3) detect the facultative carrier state.- - - - - - - - - - ranking = 1keywords = basal ganglion, ganglion (Clic here for more details about this article) |
2/8. Alzheimer's tangles in sudanophilic leukodystrophy.We present a case of infantile leukodystrophy with some sudanophilic features. A normally developed male infant did well until age 15 months. Then he had episodes of myoclonus, reversal of intellectual development, rigidity with decerebrate posturing and epilepsy, which became severe. He died at age 7 years, 10 months. On autopsy, the brain was normally developed, but there was severe demyelination and gliosis throughout the white matter; the cerebellar cortex showed atrophy. The striking, unexpected finding was the presence of numerous Alzheimer's tangles containing paired helical filaments in electronmicroscopic examination, not only in the cerebral cortex but also in the brainstem, basal ganglia, and hypothalamus including the nucleus basalis of Meynert. Other unusual findings were hyperostosis of the skull and the appearance of macrophages containing PAS-positive granules in the reticuloendothelial system in many organs.- - - - - - - - - - ranking = 0.022833460020641keywords = nucleus (Clic here for more details about this article) |
3/8. Ocular pathologic findings in neonatal adrenoleukodystrophy.Ocular pathology in a case of neonatal adrenoleukodystrophy (ALD) showed marked degeneration of photoreceptor cells throughout the retina including the macula. Macroscopically visible white opacities in the cortical vitreous of the posterior fundus were shown immunohistochemically and ultrastructurally to be macrophages containing bileaflet inclusions, a finding previously unreported. Additional findings included extensive loss of the retinal nerve fiber and ganglion cell layers, optic nerve degeneration, and bileaflet inclusions in retinal pigment epithelial cells and macrophages of the retina and optic nerve. Focal retinal pigmentary changes were observed that histologically were different from retinitis pigmentosa.- - - - - - - - - - ranking = 0.48116007647121keywords = ganglion (Clic here for more details about this article) |
4/8. Childhood form of adrenoleukodystrophy in the sucking infant.The childhood form of adrenoleukodystrophy (ALD) in a sucking infant was discovered before the appearance of clinical symptoms. C24:0/C22:0 and C26:0/C22:0 ratios in umbilical cord plasma were significantly higher so that very long-chain saturated fatty acid-restricted milk was given. Ultrastructural study on biopsied rectal mucosa revealed rectilinear and/or curved electron-lucent clefts in the histiocytes at 3 months of age, which were also recognized in the elder brother and another boy with symptoms of ALD. However, magnetic resonance imaging and T1 and T2 values were within the normal range in cerebral gray matter, cerebral white matter, caudate nucleus, internal capsule, and thalamus.- - - - - - - - - - ranking = 0.022833460020641keywords = nucleus (Clic here for more details about this article) |
5/8. adrenoleukodystrophy with olivopontocerebellar atrophy-like lesions.In a 46-year-old Japanese man with chronic psychiatric and neurologic symptoms, autopsy revealed enlarged adrenal cortical cells with trilamellar cytoplasmic inclusions and demyelinating lesions, marked in the fronto-parietal lobes and in the cerebellar hemispheres and corresponding to the pathology of adrenoleukodystrophy (ALD). Unusual gray matter lesions were found in the thalamus, cerebellar cortex, inferior olive and pontine nucleus, and the latter three lesions resembled those seen in cases of olivopontocerebellar atrophy (OPCA). These lesions are attributed to secondary changes due to disruption of the thalamo-cortical, cerebro-ponto-cerebellar and olivo-cerebellar connections.- - - - - - - - - - ranking = 0.022833460020641keywords = nucleus (Clic here for more details about this article) |
6/8. pelizaeus-merzbacher disease. The Lowenberg-Hill type.The clinical and neuropathological findings are reported of two sibs with adult type PMD. Clinical features deviating from the usual pattern included: no psychosis, no measurable dementia, no dwarfism, no microcephaly, no (marked) involuntary movements, but conspicuous generalised muscle atrophy and denervation, impairment of vital and gnostic sensation, thoracolumbar vertebral anomalies, and aplasia of os coccygis. Neuropathological findings were as usual, with additional unusual features: pinhead-size areas of acute myelin-abbau products, involvement of grey in addition to white matter, and upon ultrastructure, the new finding of intra-oligodendroglial fingerprint bodies, both in neuronal satellite and in white matter oligoglia, but not in astrocytes, ganglion cells, or pericytes. This excludes the origin of the stored material in the lysosomes as to derive exclusively from demyelination and would possibly imply PMD to be an oligodendroglial lysosomal storage disease.- - - - - - - - - - ranking = 0.48116007647121keywords = ganglion (Clic here for more details about this article) |
7/8. Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy.Histopathologic studies of the eyes of one patient (a boy who died at 14 years of age) with childhood adrenoleukodystrophy and two patients (girls who died at 24 and 31 months of age) with neonatal adrenoleukodystrophy showed the accumulation of the characteristic bileaflet inclusions in optic nerve macrophages, retinal neurons, and macrophages and loss of ganglion cell and nerve fiber layer. Additionally, in the two cases of neonatal adrenoleukodystrophy, changes resembling early retinitis pigmentosa were found, with accumulation of characteristic inclusions in the retinal pigment epithelium and pigment-laden macrophages. One of the patients with neonatal adrenoleukodystrophy also had an anterior subcapsular cataract and cystoid macular edema.- - - - - - - - - - ranking = 0.48116007647121keywords = ganglion (Clic here for more details about this article) |
8/8. Ocular histopathologic and biochemical studies of the cerebrohepatorenal syndrome (Zellweger's syndrome) and its relationship to neonatal adrenoleukodystrophy.The eyes of three infants with cerebrohepatorenal disease (Zellweger's syndrome) who died demonstrated ganglion cell loss, gliosis of the nerve fiber layer and optic nerve, optic atrophy, and changes resembling those of retinitis pigmentosa in the retina and pigment epithelium. Ultrastructural examination showed bileaflet inclusions identical to those seen in neonatal adrenoleukodystrophy in the pigment epithelium and in pigmented macrophages, but these were absent in the cornea. Biochemical analysis of tissues demonstrated an excessive amount of very-long-chain fatty acids in the ocular tissues, an abnormality also found in adrenoleukodystrophy. These histopathologic and biochemical results demonstrated that the cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy are similar in regard to ocular abnormalities and the presence of saturated very-long-chain fatty acids.- - - - - - - - - - ranking = 0.48116007647121keywords = ganglion (Clic here for more details about this article) |