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Biomedical subjects

C Vital

Publications and source records attributed to C Vital.

At least 55 records · Page 3Linked to original sources
PubMed1999

Giant cell angiitis of the central nervous system with amyloid angiopathy. A case report and review of the literature.

We report a new case of giant cell angiitis of the central nervous system associated with cerebral amyloid angiopathy (GA/CAA). A 67-year-old woman was hospitalized with a history of headaches and lapses of consciousness. After improvement with corticosteroidtherpay, treatment was stopped. She relapsed and died 33 days after first admission. Pathological examination showed unusual extension of GA/CAA lesions, in the superficial and deep layer of the cerebral cortex, and in the cerebellum. Simultaneous occurrence of GA and CAA is rare. Histopathologic findings and immunological pathogenesis of the process are discussed: 1) arguments over pre-existence of CAA, responsible for GA; 2) primitive inflammatory process inducing amyloid deposits; 3) GA/CAA may represent an association of histological lesions related to 2 different types of disease: i) neurodegenerative disease with specific lesions (such as presence of diffuse senile plaques and neurofibrillary tangles) inducing inflammatory reaction ii) inflammatory disease, with few or no degenerative lesions, responding to immunotherapy.

Aged↗
PubMed1998

p53 protein expression in grade II astrocytomas: immunohistochemical study of 100 cases with long-term follow-up.

p53 protein expression was evaluated by immunohistochemistry in a homogeneous series of 100 supratentorial grade II astrocytomas with long-term follow-up. The staining was positive in 72 cases. The proportion of p53 positive tumors was slightly higher in younger patients. The tumor regrowths which derived from p53 positive tumors were themselves p53 positive, and this p53 immunopositivity was often stronger than in the initial tumors. All of the 10 gemistocytic astrocytomas included in our series were p53 positive, and age more than histological type appeared decisive in prognosis. p53 protein expression did not quite reach statistical significance as an independent predictive variable in multivariate analysis, whereas survival was related with age, mass effect, surgery and tumor location. Only a tendency to a longer survival was observed on the curves in younger patients with mildly positive tumors.

Adolescent↗
PubMed1998

Prion encephalopathy with insertion of octapeptide repeats: the number of repeats determines the type of cerebellar deposits.

We studied modifications of the molecular layer of the cerebellum in three patients with octapeptide repeat insertion (OPRI). Two brothers carrying a six-OPRI showed only spongiosis in haematoxylin & eosin preparations (H&E), whereas immunocytochemical examination (ICC) with an antiprion protein (PrP) antibody revealed numerous elongated PrP deposits. The third patient from a family with an eight-OPRI had numerous plaques visible in H&E preparations and had been diagnosed as Gerstmann-Straüssler-Scheinker syndrome. So far, 15 other cases from seven families and three individual cases with OPRI have undergone neuropathological examination. Characteristic PrP deposits were seen in six other cases, two isolated cases with a four- and a seven-OPRI, whereas four cases with a six-OPRI came from three different families. Such deposits have never been reported in other cases of prion encephalopathy, without OPRI. Genuine plaques were observed in five out of the 15 other patients. Interestingly, four had an eight-OPRI and one a nine-OPRI. Cases with OPRI are prone to develop different PrP deposits: those only visible on ICC are not to be confused with genuine plaques visible in H&E preparations. Elongated PrP deposits are present in cases with a four- to seven-OPRI, whereas plaques are present when there is an eight- or a nine-OPRI. All these cases should be termed prion encephalopathy with OPRI.

Adult↗
PubMed1998

Clinical features of fatal familial insomnia: phenotypic variability in relation to a polymorphism at codon 129 of the prion protein gene.

Fatal Familial Insomnia is a hereditary prion disease characterized by a mutation at codon 178 of the prion protein gene cosegregating with the methionine polymorphism at codon 129 of the mutated allele. It is characterized by disturbances of the wake-sleep cycle, dysautonomia and somatomotor manifestations (myoclonus, ataxia, dysarthria, spasticity). PET studies disclose severe thalamic and additionally cortical hypometabolism. Neuropathology shows marked neuronal loss and gliosis in the thalamus, especially the medio-dorsal and anterior-ventral nuclei, olivary hypertrophy and some spongiosis of the cerebral cortex. Detailed analysis of 14 cases from 5 unrelated families showed that patients ran either a short (9.1 +/- 1.1 months) or a prolonged (30.8 +/- 21.3 months) clinical course according to whether they were homozygote met/met or heterozygote met/val at codon 129. Moreover, homozygotes had more prominent oneiric episodes, insomnia and dysautonomia at onset, whereas heterozygotes showed ataxia and dysarthria at onset, earlier sphincter loss and epileptic Grand Mal seizures; they also displayed more extensive cortical involvement on PET and at postmortem examination. Our data suggest that the phenotype expression of Fatal Familial Insomnia is related, at least partly, to the polymorphism at codon 129 of the prion protein-gene.

Adult↗
PubMed1998

Neuronal apoptosis in fatal familial insomnia.

The possibility that neuronal loss in prion diseases occurs through an apoptotic process has been postulated and is consistent with the lack of inflammation in these disorders. In order to test this hypothesis in FFI, in which neuronal loss is the predominant neuropathological feature, we examined samples of thalamus, basal ganglia, cerebral cortex, cerebellum and medulla from 10 subjects with FFI. All the patients had the characteristic 178 N mutation of the PrP gene. Eight subjects were homozygous methionine/methionine at codon 129 and 2 were heterozygous methionine/valine. Apoptotic neurons were identified by in situ end labelling in all the FFI cases and in none of the controls. They were mostly found in damaged regions and their presence and abundance seemed to correlate closely with the neuronal loss. They were particularly abundant in the thalamus and medullary olives. In heterozygous cases who had a longer disease duration and more widespread cerebral changes, apoptotic neurons were also found in the neocortex and striatum. The abundance of apoptotic neurons also correlated well with microglial activation as demonstrated by the expression of major histocompatibility complex class II antigens. PrPres immunostaining was almost invariably negative, consistent with previous data showing the lack of obvious correlation between neuronal loss and PrPres deposits in prion diseases.

Adult↗
PubMed1998

Creutzfeldt-Jakob disease with long duration and panencephalopathic lesions: molecular analysis of one case.

A 49-year-old woman presented with isolated aphasia followed by dementia and ataxia with a duration of 4 years. Histopathologically there was panencephalic involvement, status spongiosus, and kuru-type plaques. Molecular analysis showed heterozygosity at codon 129 in the prion protein (PrP) gene, and type 2 protease-resistant PrP. The comparison between this case and those previously reported suggests that the panencephalopathic variant of Creutzfeldt-Jakob disease (CJD) is an aspecific end-stage condition displayed by most if not all CJD variants in individual patients with an unusually prolonged course.

Biopsy↗
PubMed1998

Congenital insensitivity to pain with anhydrosis. Report of two unrelated cases.

Two unrelated female cases of congenital insensitivity to pain with anhydrosis are presented. The first case was born from consanguineous parents. In both cases, onset of manifestation was observed in infancy with automutilation and recurrent fever. Both were mentally retarded. They underwent a peripheral nerve biopsy respectively at 3 and 33 years. A dramatic loss of unmyelinated fibers was observed in both cases. Myelinated fibers were also moderately reduced in number, especially those of smallest diameter; this loss was more marked in the second patient who was adult when the peripheral nerve was studied. Clusters of regenerating myelinated fibers were seen in both cases. Such histological observations might suggest a slowly progressive disorder. The cases are discussed together with previous reports dealing with congenital insensitivity to pain.

Adult↗
PubMed1998

[Langerhans-cell histiocytosis and Erdheim-Chester disease: probably not a fortuitous association].

BACKGROUND: Erdheim Chester disease (MEC) is a rare non-Langerhans cell histiocytosis characterized by multi-visceral involvement. We report a case of MEC associated with Langerhans cell histiocytosis (HCL). CASE REPORT: A 46-year-old women presented skin and vulvar localization of HCL associated with typical MEC bone involvement. Despite chemotherapy (vinblastine) and prednisone, the disease progressed to involve the central nervous system, leading to fatal outcome. Post-mortem examination showed HCL in skin, MEC in bones and central nervous system, and intermediate histiocytic proliferation in the encephalon. DISCUSSION: Usually, MEC and HCL are considered as distinct entities. MEC is characterized by a xanthogranulomatous proliferation of CD 68+ foamy histiocytes nested in fibrosis, and HCL by a proliferation of PS 100+ and CD1a+ Langerhans cells. However, our observation, as well as previous reports, suggests that MEC is part of the HCL spectrum.

Bone Diseases↗
PubMed1998

[Long-term survival after metastatic cerebral melanoma].

BACKGROUND AND PURPOSE: Long-term survival, i.e. more than 10 years after the surgical removal of a metastatic intracerebral melanoma, is very rare. We report such a case, the patient is living and in good health 12 years later. CASE REPORT: In 1985, a 63-year-old woman underwent occipital craniotomy. An ovoid, 4 cm diameter, superficial, black tumor was removed. The diagnosis of a metastatic cerebral melanoma was confirmed by histopathology and immunocytochemistry. Ten years before she had had a superficial spreading melanoma excised from her right foot. She has recently been seen without any recurrence of her melanoma. CONCLUSION: Three other cases of long-term survival after metastatic cerebral melanoma have been reported. Additionally, our patient had her metastatic cerebral melanoma ten years after removal of a superficial spreading melanoma. There are only a few examples of such long intervals before the occurrence of metastatic cerebral melanoma. Sometimes, the past medical history of a patient with cerebral metastasis should be investigated very carefully.

Brain Neoplasms↗
PubMed1997

Molecular anatomy of the development of the human substantia nigra.

A series of 15 fetal and perinatal human brains (from week 12 of fetal life to day 2 after birth) was studied in order to describe the anatomical and molecular correlates of the substantia nigra ontogeny. In situ hybridization, immunohistochemistry and binding studies were used to detect D2 dopamine receptor (D2R) mRNA, D2R binding sites, dopamine membrane transporter (DAT) mRNA, tyrosine hydroxylase (TH) protein D1 dopamine receptor (D1R) protein and D1R binding sites. Dopaminergic (DA) neurons of the substantia nigra were detected through TH immunoreactivity from week 12. At week 16, the substantia nigra was clearly delineated as a compact group of intermingled neurons and fibers. From week 19, groups of DA neurons were segregated from the pars reticulata. These groups have been divided into the substantia nigra pars compacta, the ventral tegmental area and the retrorubral area. The DA neurons exhibited a gradual increase in size and branching development until birth. From week 12 onward they expressed several other markers of dopamine transmission, i.e., D2R mRNA, D2R binding sites and DAT mRNA. The ventral tegmental area expressed lower levels of mRNA for DAT and D2R than the pars compacta. From week 12, D1R immunoreactivity and D1R binding sites were also present in the substantia nigra pars reticulata. This suggests that projecting striatonigral neurons, known to express the D1R gene, have developed pathways connecting with the substantia nigra by week 12. Our results demonstrate that the developing substantia nigra in human displays early transcriptional and translational activity for the main constituents of dopaminergic transmission from week 12 and receives at this time dopaminoceptive inputs bearing D1 receptors from the striatum.

Biomarkers↗
PubMed1997

Allelic origin of the abnormal prion protein isoform in familial prion diseases.

The hallmark of prion diseases is the presence of an aberrant isoform of the prion protein (PrP(res)) that is insoluble in nondenaturing detergents and resistant to proteases. We investigated the allelic origin of PrP(res) in brains of subjects heterozygous for the D178N mutation linked to fatal familial insomnia (FFI) and a subtype of Creutzfeldt-Jakob disease (CJD178), as well as for insertional mutations associated with another CJD subtype. We found that in FFI and CJD178 subjects, only mutant PrP was detergent-insoluble and protease-resistant. Therefore, PrP(res) derives exclusively from the mutant allele carrying the D178N mutation. In contrast, in the CJD subtype harboring insertional mutations, wild-type PrP was also detergent-insoluble and likely to be protease-resistant. Our findings indicate that the participation of the wild-type PrP in the formation of PrP(res) depends on the type of mutations, providing an insight into the molecular mechanisms underlying the phenotypic heterogeneity in familial prion diseases.

Alleles↗
PubMed1997

Widespread dilatation of perivascular spaces: a leukoencephalopathy causing dementia.

A 68-year-old demented woman had widespread dilatation of perivascular spaces in the cerebral white matter for at least 12 years. There were no micro-infarcts, but some vessel walls in the white matter were thickened by a loose fibrosis. Our case does not correspond to Binswanger's disease or any other known vascular leukoencephalopathy. The longstanding evolution points to a nonfamilial leukoencephalopathy of probable vascular origin.

Aged↗
PubMed1997

Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family.

Three members of a Basque family carrying a novel six R2 octapeptide repeat 144-bp insertion in the prion protein gene (PRNP) showed a slowly progressive dementia associated with cerebellar signs, myoclonic jerks, and seizures. Although postmortem examination revealed only focal and minimal spongiform degeneration in one subject with a 4-year course, significant astrogliosis and neuronal loss were associated with pronounced spongiform degeneration in the patient with a duration of symptoms of 10 years. Prion protein (PrP)-immunoreactive patches with a unique morphology were present in the molecular layer of the cerebellum in both subjects. Western blot analysis demonstrated the presence of protease-resistant prion protein (PrPres) with the same characteristics (size and ratio of the three differently glycosylated isoforms) of that found in typical sporadic Creutzfeldt-Jakob disease (CJD129M/M, PrPres type 1). The amount of PrPres correlated with presence and severity of spongiform degeneration in the cerebral cortex. The findings suggest that a relatively low rate of PrPres deposition is the cause of the lack of spongiform degeneration in subjects carrying a 144-bp insertion in PRNP. The presence of PrP-immunoreactive patches with unique morphology in the molecular layer of the cerebellum is a hallmark of certain prion encephalopathies with insertional mutations and is useful in the diagnosis of this subtype of human prion disease.

Adult↗
PubMed1997

Acute painful diabetic neuropathy: two patients with recent insulin-dependent diabetes mellitus.

Two young men developed an acute painful peripheral neuropathy a few weeks after being diagnosed to suffer from an insulin-dependent diabetes mellitus. In both cases, peripheral nerve biopsy exhibited a few features of acute axonal degeneration. Additionally, in the first case there was a lymphocytic infiltrate around an endoneurial capillary, and in the second case there were several mast cells in the endoneurium of every fascicle examined. A few months later, the acute pain had disappeared in both cases. Only a few cases of acute painful diabetic neuropathy have been reported so far. A vascular origin seems unlikely and metabolic disorders are probably due to a contemporary severe weight loss. An auto-immune mechanism is an alternative explanation.

Acute Disease↗
PubMed1997

[Isolated involvement of the trigeminal nerve of sarcoidosis origin].

Sarcoidosic neurological manifestations are uncommon. Isolated cranial nerve's injury is exceptional. The authors report the case of a 29 year-old woman with a trigeminal nerve tumor. Surgery and anatomopathology led to the diagnosis of sarcoidosic infiltration. No other neurological or extra-neurological localization was found. Cranial fifth nerve injury was observed in 14 cases of the literature. In all cases, trigeminal nerve injury was described as associated with another disease's localization (neurological and/or extra-neurological). This observation seems unusual due to isolated nature of the presentation and complete resolution after surgery. This case illustrated the diagnosis and nosologic difficulties raised by granulomatous lesions, symptomatic or not, in the absence of systemic localization.

Adult↗
PubMed1997

[Multineuritis in essential hypereosinophilia syndrome].

A 72-old-man with a dramatic weight loss, exhibited a mononeuritis multiplex of subacute onset, and myalgia. There was hypoesthesia and weakness on median and ulnar nerves bilaterally, and weakness on left femoral nerve. Electrodiagnostical studies showed an axonal pattern of neuropathy. There was a considerable hypereosinophilia on blood count without any aetiologia found on exhaustive explorations. The idiopathic hypereosinophilic syndrome with a mononeuritis multiplex was suggested. Histological findings were an acute myelino-axonal degeneration with endoneural oedema, without vasculitis nor eosinophil cell on nerve-biopsy. Dramatic improvement occurred with corticosteroids and immunosuppressive treatment.

Aged↗