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Biomedical subjects

C Vital

Publications and source records attributed to C Vital.

At least 109 records · Page 6Linked to original sources
PubMed1993

[Polysaccharide bodies: an unusual finding in a case of temporal epilepsy. Review of the literature].

Massive occurrence of polyglucosan bodies (PB) was found in the surgically removed temporal lobe of a 34 year-old woman presenting with complex partial seizures. The term of PB was proposed in order to group Lafora bodies (LB), corpora amylacea (CA) and Bielschowsky bodies (BB) on the basis of their biochemical similitude. A rigorous histochemical differentiation between these anomalies appears to be impossible at present. LB, BB and CA are mainly made up of glucose polymers i.e. polyglocusans. The pathway(s) leading from glycogen accumulation to PB formation is still unknown. PB are a hallmark of two diseases: Lafora disease and adult polyglucosan body disease. PB have occasionally been reported in rare cases of a variety of other neurological diseases. In all cases they were located within the neurons. This site characterizes Lafora bodies. BB are intraneuronal inclusions but restricted to neurons of the external pallidum. CA occur predominantly in the astroglia during the course of ageing. The significance of these structures depends on their regional distribution. The resemblance does not imply a common etiology for all conditions in which such bodies occur; it is probably due to the sharing of the final path in their causative pathway. Our case does not correspond to any of the classical diseases in which PB have been found. In our opinion, the patient exhibited a localized form of glycogen storage disease.

Adult↗
PubMed1993

[Regressive mitochondrial abnormalities in the muscular biopsy of a bicycling champion].

The onset of severe muscle cramps in the course of road racing led a champion to undergo a muscle biopsy. Fuscinophilic deposits were detected around muscle cell fibers together with a few PAS positive deposits. These findings were related to the accumulation of abnormal mitochondria and glycogen granules. The subsequent study of the mitochondrial respiratory chain did not reveal any modification and so ruled out a genuine mitochondrial myopathy. Such mitochondrial modifications are probably related to the onset of muscle cramps, but no metabolic disturbance could be found to account for these two phenomena.

Adult↗
PubMed1993

Uterus-like mass of the conus medullaris with associated tethered cord.

A patient with a mass lesion of Müllerian origin associated with a spinal dysraphism is reported. The mass lesion was a genuine uterine formation, and a hemorrhage arose from a functional endometrium. A spinal dysraphism was associated, including a low-lying conus medullaris, a subcutaneous lipoma, and a sinus between the cul-de-sac and the lipoma. This ectopic and mature tissue may be differentiated from teratoma and endometriosis.

Adolescent↗
PubMed1992

Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.

Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD), two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asn178) of the prion protein gene. The possibility that a second genetic component modified the phenotypic expression of the Asn178 mutation was investigated. FFI and the familial CJD subtype segregated with different genotypes determined by the Asn178 mutation and the methionine-valine polymorphism at codon 129. The Met129, Asn178 allele segregated with FFI in all 15 affected members of five kindreds whereas the Val129, Asn178 allele segregated with the familial CJD subtype in all 15 affected members of six kindreds. Thus, two distinct disease phenotypes linked to a single pathogenic mutation can be determined by a common polymorphism.

Adult↗
PubMed1992

Occurrence of active demyelinating lesions in children with hereditary motor and sensory neuropathy (HMSN) type I.

In three children with dominant hereditary motor and sensory neuropathy type I, peripheral nerve biopsy showed the classical lesions of segmental demyelination with remyelination and onion bulb formations. In two cases, ultrastructural examination also demonstrated numerous characteristic features of active demyelination. The presence of active demyelinating lesions suggests an autoimmune attack superimposed on the course of a chronic genetic disease.

Child↗
PubMed1992

Three cases of primary cerebral lymphoma in AIDS patients: detection of Epstein-Barr virus by in situ hybridization and Southern blot technique.

Three cases of primary cerebral lymphoma in acquired immunodeficiency syndrome were studied. Tumoral fragments taken at autopsy were frozen and studied by the Southern blot technique (SBT). Other tumoral fragments were fixed in formalin, embedded in paraffin and used for in situ hybridization (ISH) with biotinylated probes for DNA of Epstein-Barr virus (EBV). ISH was positive in each case with a spotty nuclear labelling of certain tumoral cells. SBT evidenced a clonal rearrangement of the immunoglobulin heavy chain gene in each case. In addition, EBV DNA was detected in each frozen fragment with only one restriction pattern, indicating that the EBV- infected cell population was a clonal expansion of a progenitor cell.

Adult↗
PubMed1992

Morphological findings on peripheral nerve biopsies in 15 patients with human immunodeficiency virus infection.

A peripheral nerve biopsy was performed in 15 patients with human immunodeficiency virus (HIV) infection and polyneuropathy. Two cases [1 asymptomatic, 1 AIDS-related complex (ARC)] presented with chronic inflammatory demyelinating polyneuropathy; there was 1 case (asymptomatic) of mononeuropathy multiplex and 12 cases (1 asymptomatic, 1 ARC, 10 AIDS) with distal symmetrical polyneuropathy. Epi- or endoneurial microvasculitis was observed in 6 cases. Electron microscopy showed that nerve fiber lesions were mainly axonal. Severe segmental demyelination was also present in both cases of chronic inflammatory demyelinating polyneuropathy, with characteristic features of active demyelination in one. Numerous plasmacytoid cells were found in the endoneurium in 4 patients. Tubuloreticular inclusions were present in endothelial cells in the 10 cases with AIDS but absent in the other patients. Direct immunopathological examination with anti-immunoglobulin sera was negative in all cases. HIV was evidenced by in situ hybridization in 2 AIDS patients; no Epstein-Barr virus or cytomegalovirus was detected.

Adult↗
PubMed1992

A pineal tumour with features of "pineal anlage tumour".

A primitive tumour of the pineal region in a 9 month-old boy caused hydrocephalus, ataxic gait and paraplegia leading to death after 9 months of evolution. Histological and histochemical examination revealed a pinealoblastoma with melanotic cells as well as cartilaginous formations. The leptomeningeal seeding of the tumour showed neuroblastic and neuronal differentiation. A diagnosis of pineoblastoma with neuroepithelial and ectomesenchymal differentiation was made. This tumour belongs to a recently defined category of pineal tumours, called pineal anlage tumours.

Biomarkers, Tumor↗
PubMed1992

Occurrence of polyglucosan bodies in temporal lobe epilepsy.

Massive occurrence of polyglucosan bodies (PBs) was found within the surgically removed temporal lobe of a 34 year old woman with complex partial seizures. This peculiar feature is very unusual in neuropathological examinations of epileptogenic foci. This patient could not be included in any of the classic diseases in which PBs are found. She exhibited a localised form of glycogen storage disease.

Adult↗
PubMed1992

Analysis of the prion protein gene in thalamic dementia.

Thalamic degenerations or dementias are poorly understood conditions. The familial forms are (1) selective thalamic degenerations and (2) thalamic degenerations associated with multiple system atrophy. Selective thalamic degenerations share clinical and pathologic features with fatal familial insomnia, an autosomal dominant disease linked to a mutation at codon 178 of the prion protein (PrP) gene that causes the substitution of asparagine for aspartic acid (178Asn mutation). We amplified the carboxyl terminal coding region of the PrP gene from subjects with selective thalamic dementia or thalamic dementia associated with multiple system atrophy. Three of the four kindreds with selective thalamic dementia and none of the three kindreds with thalamic dementia associated with multiple system atrophy had the PrP 178Asn mutation. Thus, analysis of the PrP gene may be useful in diagnosing the subtypes of thalamic dementia. Moreover, since selective thalamic dementia with the PrP 178Asn mutation and fatal familial insomnia share clinical and histopathologic features, we propose that they are the same disease.

Base Sequence↗
PubMed1992

[Autosomal dominant centronuclear myopathy].

In a family 6 members in 3 generations were affected by centronuclear myopathy (CNM) of autosomal dominant inheritance. The apparent onset was in the early forties and the disease progressed slowly. Limb weakness was predominant. Strabismus was present in 5 cases and calves hypertrophy in 3. Serum creatinine kinase was always within the normal range. In one case myotonic bursts were found at electromyography. In 2 cases brain stem auditory evoked potential studies demonstrated abnormal prolongation of interpeak latencies I-III and favoured subclinical nervous system involvement. Muscular biopsies showed typical features of centronuclear myopathy with 50 to 80% central nuclei. In two cases immunocytochemical labelling of dystrophin showed staining in the sarcoplasm in favour of an arrest in the morphogenesis of developing myofiber. Others families with autosomal dominant CNM in the literature and also some sporadic adult cases had similar clinical features.

Adult↗
PubMed1991

Giant supratentorial meningeal haemangiopericytoma in a newborn.

A brain tumour in a newborn is rare. The incidence of congenital tumours is 0.34 per one million births. We report a case of a huge right hemispheric tumour operated upon successfully in a child 5 days old, who had a total tumoural excision and an uneventful outcome with 5 months follow up. This tumour appears to be the first meningeal haemangiopericytoma described in a newborn. Adequate treatment and histological findings are discussed. meningeal haemangiopericytomas are now considered as originating in pericytes, in the light of recent immunopathological results, and are to be separated from true meningiomas.

Hemangiopericytoma↗
PubMed1991

IgM cryoglobulin deposits in the peripheral nerve.

In a patient with Waldenström's macroglobulinaemia and peripheral neuropathy, direct immunofluorescence of a peripheral nerve revealed the presence of abundant IgM and kappa light chain deposits in the endoneurium. Electron microscopic examination showed the microtubular structure of these endoneurial deposits, which strongly suggested the presence of cryoglobulin; this was then found in the serum.

Aged↗
PubMed1991

Inflammatory demyelinating lesions in two patients with IgM monoclonal gammopathy and polyneuropathy.

We report two patients with polyneuropathy and IgM monoclonal gammopathy in whom peripheral nerve biopsy showed the widening of myelin lamellae which is characteristic of IgM paraproteinaemic neuropathy. Moreover, certain myelinated fibres were invaded by histiocytes overloaded with myelin debris, and in some instances elongated macrophage processes could be seen peeling away the myelin lamellae. The latter ultrastructural features are characteristic of inflammatory demyelinating polyneuropathies in both human and experimental pathology. Such an association has not been reported to date in human pathology, but could explain the prevalence of inflammatory demyelinating lesions in experimental models of IgM paraproteinaemic neuropathy. These two cases seem to bridge the gap between inflammatory demyelinating polyneuropathies and polyneuropathies associated with IgM monoclonal gammopathy.

Aged↗
PubMed1991

[Pleomorphic xanthoastrocytoma. Apropos of 3 new cases. Review of the literature].

Three cases of pleomorphic xanthoastrocytomas (P.X.A.), a low grade leptomeningeal glioma are reported. Prominent histological features used for diagnosis were a cellular pleomorphism of G.F.A.P. positive cells, with intracytoplasmic lipidic vacuols. A reticulinic network and mononuclear cells infiltrates have been observed. A weak mitotic activity and lack of necrosis and of endothelial cells proliferation were significant additional features necessary for diagnosis. Our cases were observed during the surgical management of young patients with resistant epilepsy. Neuroradiological examinations showed a tumor superficially located within the temporal or the parietal lobe. This tumor could be calcified and/or cystic. Operative aspects showed a firm and non-encapsulated leptomeningeal tumor with possible various colors. Our patients were seizures-free after surgery even during the follow-up. From the currently reported cases clinical follow-up ranging for 1.5 to 3 years is not sufficient to predict a favorable carcinologic prognosis. P.X.A. is an uncommon tumor and less than 50 cases are reported throughout the literature. This tumor affecting young subjects mainly during the second decade is revealed in the majority of cases (3/4) by epileptic seizures, less frequently by a deficit or by an intracranial hypertension. The great majority of clinical events are observed before 20 years. The functional prognosis is rather good after surgery with a disappearance of epileptic fits in about 50% of the cases. Throughout the literature the prognosis of this tumor seems to be comparable to low-grade astrocytomas. Optimal management of P.X.A. seems to be primary surgical resection with later surgery for residual or recurrent tumor. The role of radiotherapy in the management of P.X.A. is at this time uncertain.

Adult↗
PubMed1991

[Sensory neuropathy and subacute dysautonomia. Clinical and pathological study].

We report a case of severe subacute autonomic and sensory neuropathy in a 52 year-old man. Cerebrospinal fluid protein was 275 mg/dl. Electrophysiological data were consistent with an axonal sensory neuropathy. Nerve biopsy showed a severe decrease in myelinated fibers, and a less severe loss of unmyelinated fibers. No cause was found and recovery was almost complete over 4 years, with minimal persistent dysautonomia. This case and 4 similar reported cases are compared with pure dysautonomia and with sensorimotor dysautonomic neuropathy. The site of damage is discussed and it is suggested that these cases are axonal forms of inflammatory polyneuropathy.

Autonomic Nervous System Diseases↗
PubMed1991

[Oncocytic carcinoma of the parotid gland].

We report the case of an oncocytic carcinoma of the parotid gland affecting a sixty year old woman that was revealed by a right inferior facial paralysis. The histological features were observed in the parotid gland and in the right superior cervical nodes. The originality of this observation as compared to the other very rare cases of oncocytic carcinoma reported is the undoubtful malignant features present right away.

Carcinoma↗