1/7. xeroderma pigmentosum and cockayne syndrome: overlapping clinical and biochemical phenotypes.Two siblings are described whose clinical presentation of cutaneous photosensitivity and central nervous system dysfunction is strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma pigmentosum. An extensive clinical evaluation supported a diagnosis of DCS and documented previously unreported findings. in vitro fibroblast studies showed UV sensitivity that was two to three times that of normal controls. However, neither a post-UV-irradiation DNA excision-repair defect indicative of XP nor a semiconservative dna replication defect indicative of XP variant was found. Rather, a failure of rna synthesis to recover to normal levels after UV exposure was observed, a biochemical abnormality seen in cockayne syndrome (CS), one of the premature-aging syndromes with clinical UV sensitivity. These patients, therefore, clinically have XP, but their biochemical characteristics suggest CS. The reason(s) for the severe neurologic disease, in light of the relatively mild cutaneous abnormalities, is unclear. Other cases with unusual fibroblast responses to irradiation have been noted in the literature and, along with the data from our patients, reinforce the notion of the complexity of DNA maintenance and repair.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/7. Unusual neurophysiological features in Cockayne's syndrome: a report of two cases as a contribution to diagnosis and classification.To clarify the diagnostic value of neurophysiological investigations in patients with Cockayne's syndrome (CS). The study involved two patients with clinical diagnoses of classical and severe CS, who were neurophysiologically evaluated by means of: (1) multimodal visual (VEPs), brainstem auditory (BAEPs) and upper limb somatosensory (SEPs) evoked potentials; (2) electroretinography; and (3) nerve conduction and needle electromyography studies. Both patients showed multimodal evoked potential (EP) signs of central nervous system involvement that overlapped in severity and extent, and were consistent with demyelination along the central sensory pathways. Flash VEPs and SEPs were more altered than pattern VEPs and BAEPs. No signs of retinopathy or hearing loss of cochlear origin were detected. The nerve conduction and needle electromyography studies showed severe signs of sensory and motor demyelinating and axonal peripheral neuropathy. Peripheral neuropathy was clinically uncertain. There were no significant differences between the two patients. Our results show that combined multimodal EP and nerve conduction studies are diagnostically highly sensitive even in the early stage of CS, but their ability to distinguish classical and severe CS is limited. The unusual features were characterised by the absence of clinical and electrophysiological signs of otherwise common retinopathy and neurosensory hearing loss. BAEPs seem to be more useful than VEPs or SEPs in the diagnostic work-up of patients with suspected CS.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/7. 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 = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/7. intracranial pressure monitoring in severe hypertensive encephalopathy.Treatment of arterial hypertension in severe hypertensive encephalopathy does not always result in clinical improvement in the patient's central nervous system. In order to elucidate further the status of the brain, the authors have measured intracranial pressure (ICP) and arterial pressure in three cases of severe hypertensive encephalopathy. ICP was elevated in two of the three cases with peak values ranging from 32-70 mm Hg. In these 2 patients, therapy to lower ICP, including hyperventilation, steroids, barbiturates, and furosemide was begun early in the course. Cerebral perfusion pressure (CPP), defined as the difference between mean arterial pressure and ICP, was kept over 50 mm Hg to maintain adequate cerebral blood flow (CBF). These 2 patients survived. In the third case, measures to control ICP were instituted late in the course and the patient died of brain herniation. intracranial hypertension is a complication of hypertensive encephalopathy and may contribute to cerebral injury. In cases of severe hypertensive encephalopathy, both ICP and arterial pressure should be monitored continuously. Judicious therapy aimed at lowering both ICP and arterial pressure, while maintaining an adequate CPP, should be employed.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/7. Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings.Three siblings with Cockayne's syndrome are reported. sural nerve biopsies revealed segmental de- and remyelination with onion-bulb formation. Disturbed visual and brain-stem auditory evoked responses indicated demyelination of the central nervous system. The peripheral and central myelinopathy increased with age, suggesting a progressive disorder. Our observations support the theory of Cockayne's syndrome being a leukodystrophy.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/7. central nervous system dysmyelination in PIBI(D)S syndrome: a further case.This is a report of new case of PIBI(D)S, a rare autosomal recessive syndrome characterized by photosensitivity, ichthyosis, brittle sulfur-deficient hair (trichothiodystrophy), impaired intelligence, decreased fertility, and short stature. Bilateral cataract and axial osteosclerosis were also detected. magnetic resonance imaging (MRI) revealed diffuse central nervous system dysmyelination, a finding also described in the only three other reported cases in which MRI was performed. The paper also considers certain similarities in neurological signs and neuroradiological findings between PIBI(D)S, cockayne syndrome, and xeroderma pigmentosum--all of which are inherited diseases characterized by photosensitivity and dna repair defect.- - - - - - - - - - ranking = 1.8749913631197keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/7. An adult case of cockayne syndrome without sclerotic angiopathy.We report an autopsy case of cockayne syndrome (CS). A 40-year-old Japanese woman was admitted to our hospital for cachexia. She had displayed the striking features of CS, including dwarfism, mental retardation, neural deafness, ataxia, intracranial calcifications, and progeria since her childhood. Endocrinological examinations suggested normal pituitary function and a disorder of the hypothalamus or the cerebrum. She died of acute pneumonia at the age of 42. autopsy findings showed typical abnormalities in the central nervous system compatible with CS; however, no atherosclerotic change was observed in the systemic arteries.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |