1/10. Comparison of MRI white matter changes with neuropsychologic impairment in cockayne syndrome.The neuropsychologic function and white matter changes observed on magnetic resonance imaging (MRI) in cockayne syndrome were studied. MRI with T2-weighted sequences revealed periventricular hyperintensity and white matter hyperintensity in all 3 cockayne syndrome patients examined; in contrast, 8 age-matched controls had no periventricular or white matter hyperintensity. MRI scans were graded according to the severity of periventricular or white matter hyperintensity using a scale applied to an elderly patient population. There was no difference in the severity of MRI white matter changes in these 3 cockayne syndrome patients, 2 of whom had severe neuropsychologic functions and one a relatively milder one. There was no correlation between neuropsychologic impairment and MRI white matter changes.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
2/10. A neuropathological study of early onset cockayne syndrome with chromosomal anomaly 47XXX.We present the clinical and neuropathological findings in a female patient with early onset cockayne syndrome and a chromosomal anomaly (47XXX). The girl was the only child of healthy, unrelated parents. She was born with a birth weight of 1,930 gm. She had progeroid facial features with bilateral cataracts. A diagnosis of 47XXX was made on the basis of a chromosomal study. Physical shortness became increasingly prominent while her weight remained stationary. Psychomotor retardation was noted, and she could never sit alone. A brain CT scan showed cerebral atrophy and calcification of the basal ganglia. Cultured skin fibroblast exhibited significant sensitivity to the ultraviolet light. She died from a chest infection at the age of 7 years and 4 months. Microscopically, the renal glomeruli showed diffuse sclerotic changes with thick capillary basement membranes. A neuropathological examination revealed a very small brain (295 gm), extensive myelin deficiency, gliosis in the white matter, and calcifications in the basal ganglia, and cerebral and cerebellar cortices. The loss of both Purkinje and granular cells was noticed in the cerebellar cortex. This is the first report of a case with the cockayne syndrome and 47XXX, and the 47XXX in this patient seems to be coincidental.- - - - - - - - - - ranking = 0.1keywords = white (Clic here for more details about this article) |
3/10. Severe form of cockayne syndrome with varying clinical presentation and no photosensitivity in a family.We report six patients with cockayne syndrome type B without photosensitivity. The patients are from the same inbred family and exhibit variable clinical features. The main clinical manifestations were progressive encephalopathy including intracranial calcification and white-matter lesions, dwarfism without growth hormone deficiency, senile appearance, mental and motor retardation, atrophy of subcutaneous fat tissue, severe pectus carinatus, and spasticity. Clinical photosensitivity was not observed in any patient. Other clinical findings were cataract, pigmentary retinopathy, and peripheral neuropathy. The onset of the disease was between 3 and 6 months of age. Molecular genetic analyses in the family established linkage to ERCC6, the gene responsible for cockayne syndrome type B, confirming the clinical diagnosis.- - - - - - - - - - ranking = 0.1keywords = white (Clic here for more details about this article) |
4/10. MRI in the diagnosis of Cockayne's syndrome. One case.Computerized tomography (CT) and magnetic resonance imaging (RMI) showed cortico-subcortical atrophy as well as calcification of the basal ganglia and the cerebellar dentate nuclei in a patient presenting with cerebellar syndrome. RMI was particularly useful in imaging the demyelination of the periventricular white matter and the subcortical U fibres. A diagnosis of Cockayne's syndrome was made. This is an extremely rare hereditary disease of unknown pathogenesis. Defective recovery of dna synthesis has been suggested.- - - - - - - - - - ranking = 0.1keywords = white (Clic here for more details about this article) |
5/10. MRI in cockayne syndrome type I.MRI findings are reported from two patients with cockayne syndrome (CS) type I, aged 11 and 37 years. Changes were compatible with diffuse white matter hypomyelination. basal ganglia calcification was present in both, marked cerebellar atrophy in the older patient. MRI may support the diagnosis of CS in the appropriate clinical context. The view that CS is a dysmyelinating disorder is further substantiated.- - - - - - - - - - ranking = 0.1keywords = white (Clic here for more details about this article) |
6/10. cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset.A 2-year-old boy with an early onset and severe form of Cockayne's syndrome (CS) showed differences from the common CS form, which made the clinical diagnosis difficult. However, the cellular characteristics of CS, that the patient's skin fibroblasts exhibited the hypersensitivity to the lethal effect of 254 nm ultraviolet light (UV) and a defective recovery of post-UV dna synthesis, but normal level of UV-induced unscheduled dna synthesis, were observed. The magnetic resonance imaging (MRI) by the inversion-recovery method of the brain at age of 26 months showed atrophy or poor development of high signal images of the white matter. The MRI spin-echo image showed a low signal image of the lenticular nucleus. The T1 and T2 values of the cerebrum (grey matter, white matter, lenticular nucleus and thalamus) were greater than those of the age-matched controls. but similar to infant brains with much free water. Such MRI findings may suggest hypomyelination leading to the severe atrophy of the brain in this CS patient. His severe symptoms progressed rapidly until his death at 35 months due to systemic sepsis and renal dysfunction. autopsy revealed severe microcephaly, severe atrophy of cerebrum, cerebellum and brain stem, and calcification throughout the brain, especially in the basal ganglia. Myelin staining showed numerous patchy losses of myelination in the cortical white matter.- - - - - - - - - - ranking = 0.3keywords = white (Clic here for more details about this article) |
7/10. Cockayne's syndrome: report of two autopsy cases associated with neurofibrillary tangles.Neuropathological findings in two patients with Cockayne's syndrome, a rare familial condition with mental retardation, progressive neurological deficits, progeria, and dwarfism, are described. Both patients showed extensive tigroid demyelination of the white matter and massive calcifications in the striatum, pallidum, and dentate nucleus. In one patient, neurofibrillary tangles were found in neurons in the nucleus basalis of Meynert, locus ceruleus, substantia nigra, and cerebral cortex, while in the other case only a few tangles were seen in the cerebral cortex. Electron microscopy revealed paired helical filaments. The presence of neurofibrillary tangles in Cockayne's syndrome, rarely reported previously, could suggest premature aging of the brain.- - - - - - - - - - ranking = 0.1keywords = white (Clic here for more details about this article) |
8/10. cockayne syndrome: unusual neuropathological findings and review of the literature.Two siblings with cockayne syndrome (CS) are described and the literature on the subject is briefly reviewed. Of particular interest were the unusual neuropathological findings in 1 of the patients. These included microcephaly, white matter atrophy with patchy loss of myelinated fibers, calcifications of the basal ganglia, occasional ferrugination of cerebral and cerebellar neurons, and severe cerebellar degeneration. Findings not previously reported in CS were proliferation of extremely bizarre astrocytes, neurofibrillary tnagles, and pigmentation of the globus pallidus. We conclude that brain involvement in CS is a result of primary degeneration in the central nervous system rather than being secondary to angiopathy or normal pressure hydrocephalus, as previously suggested.- - - - - - - - - - ranking = 0.1keywords = white (Clic here for more details about this article) |
9/10. Identical male twins and brother with cockayne syndrome.The clinical, radiological, and neuropathological findings in early onset cockayne syndrome are illustrated in identical twins and their brother. Their appearance of dwarfism with small head and prominent beaked nose strongly resembled that seen in the Seckel syndrome, but unlike patients with that syndrome they had a normal birth weight (for twins), thick cranial vaults, intracranial calcification, and a severe degree of mental retardation. The twins were deaf and blind, with optic atrophy and retinal pigmentation, while their brother had cataracts. Their hands and feet were large in proportion to their small trunk. They had cutaneous sensitivity to any slight exposure to ultraviolet light and severe neurologic problems with incoordination and spasticity. Radiologic findings included microcephaly, a thick cranial vault, a small pelvis, coxa valga, and "ivory epiphyses" in terminal phalanges of hands and feet. Pathologic findings included atrophy of white matter with widespread patchy demyelination, and massive siderocalcific deposits in the brain, particularly in the basal ganglia and cerebellum. While autosomal recessive inheritance is most likely, formally X-linked inheritance cannot be excluded.- - - - - - - - - - ranking = 0.1keywords = white (Clic here for more details about this article) |
10/10. Nondetectable cone and rod electroretinographic responses in a patient with cockayne syndrome.A 10-year-old girl complained or poor vision in both eyes. The patient showed progeria, physical and mental retardation, sensorineural hearing loss, cutaneous photosensitivity, hyperopia, poor pupillary dilation, exotropia, salt-and-pepper fundi, nondetectable cone and rod electroretinographic (ERG) responses, cerebral atrophy on computed tomography, and demyelination of periventricular white matter on magnetic resonance imaging. We believe that nondetectable cone and rod ERG responses in cockayne syndrome, as demonstrated in our patient, may be uncommon.- - - - - - - - - - ranking = 0.1keywords = white (Clic here for more details about this article) |
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