Biomedical subjects

A Vital

Publications and source records attributed to A Vital.

At least 55 records · Page 3Linked to original sources

PubMed1999

Brain stem infiltration by mixed Langerhans cell histiocytosis and Chester-Erdheim disease: more than just an isolated case?

Langerhans cell histiocytosis is classically considered as totally different from Chester-Erdheim's disease which consists in the infiltration of various parenchymas by macrophagic CD68-positive histiocytes. We report the case of a 46-year-old woman with a long history of diabetes insipidus who presented typical lesions of Langerhans cell histiocytosis on vulvar and skin biopsies as well as bony cellular infiltrates characteristic of Chester-Erdheim's disease. A few months later she presented cerebellar disorders and died after an 18-month course. At autopsy the pons was enlarged, due to numerous cellular infiltrates which were also scattered in the middle cerebellar pedoncles, dentate nuclei, midbrain and hypothalamus. There were S100-protein positive Langerhans cells intermingled with numerous ovoid CD68-positive histiocytes. There are a few reported cases of Chester-Erdheim's disease presenting foci of Langerhans cells histiocytosis in other parenchymas. In addition, there are 10 reported cases with diabetes insipidus and bilateral infiltration of the brain stem and cerebellum, considered as presenting either one type of histiocytosis or the other. Our case demonstrates that both histiocytoses may coexist in the brain and thus correspond in fact to the same pathology in certain particular cases.

Biopsy↗

PubMed1999

Prion disease with octapeptide repeat insertion.

OBJECTIVE: About 8% of prion disease cases are familial and a few are due to an octapeptide repeat insertion (OPRI) in the prion protein gene. A suitable neuropathological examination has been performed in 20 cases from 9 families and in 3 isolated cases. The number of OPRI ranges from 4 to 9 multiples of 24 base-pair. METHODS: Results from routine histopathological preparations and from immunohistochemistry performed after special tissue pretreatment were compared with those of molecular genetic investigation. RESULTS: Eight cases with 4 to 7 multiples of OPRI exhibited characteristic elongated deposits in the cerebellar molecular layer, which were visible on slides prepared with antibodies against the prion protein only. Conversely, 6 cases with 8 or 9 multiples of OPRI presented typical plaques already obvious on routine preparations. CONCLUSIONS: These variable modifications in the cerebellar molecular layer deserve to be underlined, in particular the elongated deposits which are characteristic for cases presenting 4 to 7 OPRI.

Adult↗

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

Astrocytomas and choroid plexus tumors in two families with identical p53 germline mutations.

Germline p53 mutations carry an increased risk of development of breast cancer, soft tissue and osteosarcomas, brain tumors, leukemia and adrenocortical carcinomas. Cerebral neoplasms are usually of astrocytic lineage and occur in 40% of affected families. This report presents clinical, neuropathological and molecular genetic data from 2 families in France with an identical p53 germline mutation in codon 248 (CGG->TGG; Arg->Trp) and a clustering of CNS tumors. The youngest patient in each family developed a malignant choroid plexus tumor while several young adults of both kindred succumbed to low-grade astrocytoma, anaplastic astrocytoma or glioblastoma. The only non-neural neoplasm was an adrenocortical carcinoma in a boy aged 4 years who developed an anaplastic choroid plexus papilloma 2 years later. Of 2 previously reported inherited choroid plexus tumors, 1 occurred in a family which also carried a germline mutation in codon 248. It remains to be shown whether this unusual pattern of CNS tumors is due to an organ-specific effect of this particular p53 mutation or whether it reflects the genetic background of the affected families.

Adult↗

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

[Fulminant orthochromatic leukodystrophy in an adult].

A 27-year-old man from Marocco developed a progressive dementia leading within a year to a mutic akinetic state. The course of the disease was also marked by epileptic seizures. MRI revealed diffuse white matter involvement. A frontal white matter brain biopsy was consistent with the diagnosis of orthochromatic leucodystrophy, i.e: presence of sudanophilic lipids and pigmented cells associated with myelin loss. Adult forms of orthochromatic leucodystrophy are very rare. Our case was characterized by a fulminant course.

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

Three different anti-myelin antibodies in a case of demyelinating dysglobulinemic peripheral neuropathy.

We report the case of a patient with a severe, predominantly motor, demyelinating neuropathy associated with an IgM kappa biclonal gammopathy. Immunoblot studies showed IgM reactivity against MAG, and IgG reactivity against a peripheral nerve myelin-specific protein of approximately 35 kDa. Immunodetection by thin layer chromatography showed IgM reactivity towards GM1 and GD1b, as well as towards SGPG and SGLPG. This case illustrates the existence of overlapping syndromes among dysglobulinemic neuropathies, and points to an interaction of different autoantibodies in the pathogenesis of the nerve lesions.

Aged↗

PubMed1996

Neuropathy associated with "benign" anti-myelin-associated glycoprotein IgM gammopathy: clinical, immunological, neurophysiological pathological findings and response to treatment in 33 cases.

We studied 33 patients presenting with a peripheral neuropathy associated with non-malignant anti-myelin-associated glycoprotein (MAG) IgM monoclonal gammopathy (MG) in an attempt to delineate their clinical, immunological, electrophysiological and pathological characteristics; we also reviewed our experience concerning long-term follow-up and therapy. Peripheral neuropathy associated with non-malignant anti-MAG IgM MG was observed mostly in males (sex ratio 7.2), and mean age at onset was 67 years (range 46-81). A predominantly sensory pattern was noted in more than 80% of cases, although some patients were affected by a predominantly motor peripheral neuropathy. Although disease progression was slow in most cases, 45% of patients suffered severe disability, and in 2 cases, the patient's death appeared to stem directly from the neuropathy. The electrophysiological findings were indicative of a demyelinating process in 90% of cases, and electron microscopic examination of nerve biopsy specimens demonstrated widening of the myelin lamellae in more than 95% of cases. Most of our patients showed a disappointing response to steroids and chemotherapy or plasma exchanges. Intravenous immune globulin, evaluated in 17 patients, had a transient, mostly subjective effect in 35% and led to a clear-cut improvement in 24% of cases. We did not observe any correlation between the severity of the clinical picture and the anti-sulphoglucuronyl paragloboside antibody titre; in individual cases, clinical improvement occurred without lowering of IgM levels. Although the severity and the rate of progression may greatly vary from patient to patient, the combination of clinical, electrophysiological and pathological features delineates a characteristic pattern in peripheral neuropathy associated with non-malignant anti-MAG IgM MG.

Aged↗

PubMed1996

Selective loss of myelin-associated glycoprotein from myelin correlates with anti-MAG antibody titre in demyelinating paraproteinaemic polyneuropathy.

The IgM monoclonal autoantibodies of patients with demyelinating paraproteinaemic polyneuropathy recognize a carbohydrate structure present on both myelin-associated glycoprotein (MAG) and protein zero (P0). These autoantibodies are sufficient to cause the disease but the mechanism of demyelination remains unclear. We have analysed nerve biopsies from eight patients with polyneuropathy and anti-MAG antibodies by quantitative immunohistochemistry and find a concordant pattern of reduced expression of myelin markers with the loss of myelinated fibres. We report here novel features of this disease, in particular a selective lack of detectable MAG in a large proportion of myelinated-fibres containing P0, myelin basic protein (MBP) and periaxin. There is also an inverse correlation of the distribution of MAG in peripheral nerve myelin with the serum anti-MAG antibody titres but no correlation of these titres with the loss of myelinated fibres. Double immunofluorescence staining of paraproteinaemic polyneuropathy (PPN) nerves shows anti-MAG IgM deposited on the periphery of myelinated fibres associated with or lacking MAG staining. These data suggest that the binding of anti-MAG antibodies to MAG and/or other myelin component(s) results in MAG downregulation and may have an essential role in the molecular mechanisms leading to demyelination and partial regeneration in this disease.

Antibody Specificity↗

PubMed1996

Primary Langerhans' cell histiocytosis of the central nervous system with fatal outcome. Case report.

An unusual case of primary parenchymal Langerhans' cell histiocytosis of the central nervous system is reported. The definitive diagnosis was obtained by ultrastructural detection of Birbeck granules and by immunohistochemical evidence of CD1a expression. Despite complete surgical resection, there was an early recurrence with multiple central nervous system metastases leading to a fatal outcome.

Adult↗

PubMed1996

Peripheral neuropathy associated with monoclonal IgG of undetermined significance: clinical, electrophysiologic, pathologic and therapeutic study of 14 cases.

Fourteen patients with peripheral neuropathy and monoclonal IgG of undetermined significance are reported with a retrospective study of the clinical features, electrophysiologic and sural nerve biopsy findings. There were two groups. Five patients had a relapsing chronic sensorimotor polyneuropathy with clinical (5/5), electrophysiologic (4/5) and pathologic (5/5) features compatible with chronic inflammatory demyelinating polyneuropathies (CIDP). The nine others had a slowly progressive sensory (5/9) (SPNP) or sensorimotor (4/9) (SMPNP) axonal polyneuropathy. Four patients of the first group were treated with intravenous human immunoglobulin (400 mg/kg/day for five days) with significant clinical improvement. The motor conduction velocities and distal latencies of two of these patients improved following treatment, thus matching the clinical improvement. Our results on peripheral nerve biopsies confirm the differentiation of patients with CIDP from those with SMPNP and SPNP. There was no specific immunologic serologic reactivity in any of the cases.

Aged↗

PubMed1995

Concurrent herpes simplex type 1 necrotizing encephalitis, cytomegalovirus ventriculoencephalitis and cerebral lymphoma in an AIDS patient.

Unlike cytomegalovirus (CMV) ventriculoencephalitis, herpes simplex virus type 1 necrotizing encephalitis has only rarely been observed in AIDS patients. A 40-year-old bisexual man was followed for an HIV1 infection from 1987 onwards. In June 1993 he was referred for sudden confusion, left hemiparesia and fever. The blood contained less than 10 CD4 lymphocytes/mm3. The patient remained comatose and febrile, and died 4 weeks later. In coronal sections of the brain there was necrosis of the internal parts of the left temporal lobe, necrosis of certain areas of the ventricular walls and a small tumor at the top of the right frontal lobe, which proved to be a polymorphic high-grade lymphoma. CMV ventriculoencephalitis lesions were prominent in the ventricular walls of the occipital lobes and there was a strong nuclear signal for CMV using in situ hybridization. Herpes simplex virus type 1 was shown in the nuclei and cytoplasm of certain neurons and astrocytes in the borders of the necrotized temporal lobe areas by immunohistochemistry, in situ hybridization and electron microscopy, whereas in situ hybridization and immunohistochemistry for CMV were negative in such areas. Necrotizing type 1 encephalitis must not be overlooked in immunodeficient patients.

Acquired Immunodeficiency Syndrome↗

PubMed1995

Dementia of frontal lobe type due to adult polyglucosan body disease.

We describe a patient with adult polyglucosan body disease (APBD) who presented with a dementia of frontal lobe type (FLD), with a neurogenic bladder but no symptoms of sensory motor peripheral neuropathy. Diagnosis was made from a cerebral biopsy specimen which showed an accumulation of intra-axonal polyglucosan bodies in the central nervous system. This case differs from the usual presentation, in which gait disturbance is the main symptom and diagnosis is possible by sural nerve biopsy. Little is known about the neuropsychological pattern of APBD dementia but FLD has not previously been described. APBD is a heterogeneous clinical entity of unknown cause. This diagnosis must be considered in elderly patients with dementia.

Aged↗

PubMed1995

Surgical treatment of an early epileptic encephalopathy with suppression-bursts and focal cortical dysplasia.

A case of early epileptic encephalopathy (EIEE) with suppression-bursts or Ohtahara's syndrome, associated with focal cortical dysplasia is reported. Infantile spasms and brief tonic unilateral seizures began on the fifth day of life. Interictal EEG demonstrated an asymmetrical "suppression-burst" pattern with no wake or sleep cycling. Seizures were refractory to all antiepileptic drug (AED) and steroid therapy. Magnetic resonance imaging (MRI) showed right frontotemporal cortical thickening. After three weeks of an ineffective medical treatment a preoperative evaluation with single photon emission computed tomography (SPECT) and electrocorticography (ECoG) was performed to characterize epileptogenic focus. Surgical resection of the precentral area was performed at age 1 month. Neuropathologic examinations confirmed diagnosis of focal cortical dysplasia by identifying cytoarchitectural disarray and ectopic neurons located deep in subcortical white matter. During follow-up, 1-year postoperative the child had a single febrile seizure. Neurologic examination showed minor developmental delay and slight left-sided weakness.

Age Factors↗

PubMed1995

High-grade B-cell cerebral lymphoma in a patient with anti-myelin-associated glycoprotein IgM paraproteinemic neuropathy.

A 74-year-old woman with a sensory neuropathy and IgM M-protein monoclonal gammopathy of undetermined significance developed a fatal B-cell cerebral lymphoma. CSF protein immunofixation revealed intrathecal secretion of a paraprotein of the same heavy- and light-chain isotypes as the serum monoclonal component (IgM-lambda). Reactivation of Epstein-Barr virus was present in the lymphoma cells. Different factors may be involved in the preferential malignant development of the monoclonal B-cell clone within the CNS.

Aged↗

PubMed1995

Lymphoplasmacyte-rich meningioma in a child. Case report.

A rare case of lymphoplasmacyte-rich meningioma observed in a young girl is reported. The first clinical manifestations of the disease were seizures. Neuroradiological images favored the existence of a meningioma. Abnormalities in the patient's blood chemistry, principally including hypergammaglobulinemia and inflammatory syndrome, were associated with the disease. The tumor was histologically confirmed as meningioma with massive infiltrates of type B lymphocytes. The pathophysiology of the conspicuous lymphoplasmacyte infiltrates, responsible for peripheral blood abnormalities, has remained poorly understood. Alternative diagnostic hypotheses of masses that mimic this type of meningioma are discussed.

Brain Neoplasms↗