Sudden, unexpected death due to undiagnosed frontal glioblastoma in a schizophrenic patient.

The incidence of sudden death due to undiagnosed primary intracranial tumor is low in forensic autopsy. We report a case of a 48-year-old white male, known to be a schizophrenic patient for several years, and in whom a medico-legal autopsy disclosed a large, previously undiagnosed, bilateral frontal glioblastoma infiltrating the genu of corpus callosum. We emphasize the importance of performing complete autopsy, including a thorough neuropathological examination, in all cases of sudden unexpected death, especially in those cases in which no extracerebral cause of death had been established and whose clinical history was primarily of a psychiatric nature.

Immunohistochemically detectable vitamin D-dependent calcium-binding protein is reduced in cerebellum of diabetic subjects.

The immunohistochemical distribution of the vitamin D-dependent calcium-binding protein (CaBP) was studied in the cerebellar vermis of 14 adult type (NIDDM) diabetic and 13 nondiabetic human subjects. In both groups, CaBP-immunoreactive material was found in Purkinje cells and in axons of the cortical white matter, but, when compared with controls, the positive structures had a significantly (P less than 0.001) reduced volume density in 12 of the 14 diabetic subjects. The reduction of the volume density of CaBP-positive structures in diabetic subjects was not due to an overall reduced volume of the molecular layer or of the cortical white matter. These results complement previous reports of a reduction of CaBP levels in duodenum and kidney of diabetic subjects.

Cerebral vasculitis during FK 506 treatment in a liver transplant patient.

The immunosuppressive agent FK 506 is widely used in liver transplant patients. Neurotoxicity is a major complication of its use. We report progressive and irreversible neurologic complications occurring in a 39-year-old woman who underwent liver transplantation and was treated with FK 506. Neuropathologic examination revealed multiple vasculitic lesions. The possibility of an FK 506-mediated toxic effect on the cerebral vessels is suggested.

Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14.

Detailed autopsy findings are reported for a patient with dopa-responsive dystonia genetically related to the dopa-responsive dystonia locus DYT14 on chromosome 14q13. Substantia nigra and locus ceruleus showed a normal abundance of severely hypomelanized dopaminergic neurons and no Lewy body. In the nigra, the reduction of melanin pigment was found to be asymmetric between the two sides and uneven within neurons, and the lateral aspect of the nigra appeared more affected than the medial, in a pattern similar to the neuronal loss in PD. Dopa-responsive dystonia has a unique neuropathologic signature that seems to be independent of its genotype.

Discrepancies between HMPAO and ECD SPECT imaging in brain tumors.

Among several brain radiopharmaceuticals for SPECT imaging, 99mTc complexes of HMPAO and ECD are the most widely used. They are considered to be equal in their capacity to reflect regional cerebral blood flow; but discrepancies between HMPAO and ECD brain uptake have been reported in stroke patients. This paper reports our observations regarding discrepancies between HMPAO and ECD SPECT in 14 of 23 patients with suspected brain tumors or presumed metabolic cerebral abnormalities. We obtained similar conflicting results, namely focal HMPAO hyperactivities and isoactive ECD SPECT. The majority of these discrepancies were found in patients with brain tumors (10 of 13 patients), while only 4 of the 10 remaining patients with nontumoral process showed similar discrepant results. The physiopathology behind these observations is discussed here, and it is likely to be related to the specific response to cellular metabolic disorders rather than to perfusion disturbances.

Decreased nitric oxide production accounts for secondary arteriolar constriction after retinal branch vein occlusion.

PURPOSE: After retinal branch vein occlusion (BVO), the arteriole crossing the occluded territories is often constricted. This constriction persists up to several weeks and is correlated with the development of extended territories of nonperfused capillaries. These are results of an investigation supporting the hypothesis that decrease in the production of nitric oxide (NO) accounts for the observed arteriolar constriction. METHODS: Preretinal [NO] was measured using an NO microprobe in the anesthetized miniature pigs, before and during the first 4 hours after experimental branch vein occlusion. Modifications of arteriolar diameter were correlated to preretinal [NO] changes. The retinal arteriolar sensitivity to constitutive NO was checked by applying preretinal puff injections of nitro-L-arginine (L-NA) after both systemic hypoxia and branch vein occlusion. RESULTS: Two hours after branch vein occlusion there was a 73.7 +/- 4% decrease in preretinal [NO] and a simultaneous 25.4 +/- 3.4% decrease in the diameter of the arteriole in the affected territory. Both persisted for at least 4 hours after branch vein occlusion. Applying a puff of L-NA to an arteriole previously dilated by systemic hypoxia induced a vasoconstriction. However, no arteriolar constriction was observed when a puff was applied to an arteriole after branch vein occlusion. CONCLUSIONS: These results show that experimental branch vein occlusion induces in the affected retina an impairment in the release of constitutive NO and an arteriolar constriction, which, in turn, contributes to the development of hypoxia in tissue and neuronal swelling and death in the inner retina.

Mitochondrial anomalies in a Swiss family with autosomal dominant myoglobinuria.

We report on a Swiss family in which 10 individuals of both sexes in 4 successive generations suffered from myoglobinuria, precipitated by febrile illness. It is the second family described with autosomal dominant inheritance of myoglobinuria. Four individuals suffered acute renal failure, which in two was reversible only after dialysis. In a recent case, a mitochondrial disorder was suspected because of an abnormal increase in lactate levels during an exercise test and because of a subsarcolemmal accumulation of mitochondria in a muscle biopsy, associated with a lack of cytochrome C oxidase in some muscle fibers. No mutation in the mitochondrial DNA was identified. Along with the inheritance pattern, these findings suggest that the myoglobinuria in this family is caused by a nuclear-encoded mutation affecting the respiratory chain.

Severe acute myocardial infarction during a staphylococcal septicemia with meningoencephalitis. A possible contraindication to thrombolytic treatment.

We report the first case of lethal intracranial haemorrhage complicating a treatment by rt-PA in a patient presenting with a simultaneous staphylococcal septicemia with meningoencephalitis and an acute myocardial infarction with cardiogenic shock. The presence of microvascular lesions in the central nervous system seems to be important risk factor for intracranial haemorrhage and we recommend extreme caution in the use of thrombolytic treatment in septicemic patients with acute myocardial infarction, particularly when neurological symptoms are present.

Synovial cyst and degeneration of the transverse ligament: an unusual cause of high cervical myelopathy. Case report.

A case of cystic degeneration of the transverse ligament located posteriorly to the dens and causing compression to the lower medulla and upper cervical spinal cord is reported. The clinical, pathological, and radiological findings are described and compared to the literature to characterize this syndrome more fully. The advantages of a posterolateral surgical approach are stressed.

Early fatal pontocerebellar hypoplasia in premature twin sisters.

We report clinical, neuroradiological and neuropathological findings of monozygotic twin sisters born at 30 weeks' gestation, with pontocerebellar hypoplasia (PCH) similar but not identical to type 2 PCH. They presented with hypertonia, jitteriness, spontaneous and provoked myoclonic jerks (hyperekplexia), apnoeic episodes, and progressive microcephaly. They died at 7 weeks of age from respiratory failure.

Adhesion molecules in HIV-related and idiopathic polymyositis: immunohistochemical studies.

Idiopathic polymyositis (IPM) and HIV polymyositis (HIV-PM) are considered to be related autoimmune diseases whose target is skeletal muscle. They have been associated to a T cell-mediated and MHC-I-restricted cytotoxic phenomenon, but both etiology and physiopathology remain incompletely understood. Their histological hallmarks are mononuclear leukocyte infiltrates as well as necrosis, degeneration, and regeneration of muscle fibers. In the present study, we have investigated the immunohistochemical expression of cell adhesion molecules, cytokines, and leukocyte surface antigens in biopsies of HIV-PM and IPM patients. The aim was to better define factors involved in lymphocyte recruitment and in inflammatory changes seen in PM. Notable upregulation of ICAM-1 and TNF-alpha was detected on capillary and venular endothelia and on inflammatory cells, whereas no significant VCAM-1 and ELAM-1 expression was present. LFA-1, the main ICAM-1 counter-receptor, was found to be highly expressed on lymphocytes and monocytes, especially at the vicinity of damaged fibers. The majority of infiltrating cells were CD8+CD45 RO-T cells, which are thought to have memory capacities. These findings suggest that in IPM and HIV-PM, enhanced ICAM-1 and LFA-1 expression possibly induced by TNF-alpha, may regulate the homing process of selected lymphocyte clones in muscle tissue. Lymphocyte proliferation and differentiation into memory subsets may further potentiate tissue-restricted homing capabilities.

A panencephalopathic type of Creutzfeldt-Jakob disease with selective lesions of the thalamic nuclei in 2 Swiss patients.

Creutzfeldt-Jakob disease (CJD), a subacute spongiform encephalopathy, is generally included among the group of human and animal diseases which is transmissible by a non-conventional agent, the prion, whose expression is conditioned by the host's genome. The process leading to neuropathological changes is still unknown. We report the neuropathological findings in 2 cases of the "panencephalopathic" variant of CJD, which is relatively common in Japan, but extremely rare in Europe and North America. When compared with the classical form this variant is characterized by a relatively long clinical course with persistent vegetative state and primary involvement of the white matter presenting in the form of demyelination and gemistocytic gliosis. The selective involvement of certain thalamic nuclei is a particular pathological feature in both our cases. There was practically complete neuronal loss with diffuse gliosis of the anteroventral (AV) and dorsomedial (DM) nuclei, while the neuronal loss in the pulvinar remained moderate: the other nuclei were apparently spared. A similar involvement of the thalamus has been reported in fatal familial insomnia, a recently described prion disease in which these lesions are predominant. A comparable distribution has also been observed in other degenerative neurological diseases such as Steele-Richardson-Olszewski disease, Alzheimer disease, and thalamic dementia (selective thalamic atrophy or with multisystemic degeneration). The AV and DM nuclei, commonly referred to as "limbic thalamus" represent phylogenetically the most recent thalamic structures and would appear to play an important role in the superior functions in man as memory, attention and awareness. In our cases thalamic lesions are selective, bilateral, and symmetric, not explained by Wallerian degeneration. These lesions may be due to the primary pathogenetic properties of the infectious agent. The rapid clinical evolution in a persistent vegetative state could be consequential to precocious and severe disfunction of the limbic thalamus.

Immunopathological changes in human cerebral malaria.

Pathogenic mechanisms in human cerebral malaria remain unclear. We reevaluate the role of cell-mediated immune mechanisms in the pathogenesis of this disease based on autopsy findings in a 34-year-old Caucasian male. Histologic examination of brain tissue showed typical features of severe malaria infection (sequestration of Plasmodium falciparum-infected erythrocytes in vessels, cerebral oedema, petechial lesions and Dürck granulomas). In addition to these classical changes, we found that leukocytes that stained positively in immunohistochemistry for CD68 and tumor necrosis factor-alpha (TNF) coexisted with infected erythrocytes in capillaries, whereas in venules the monocyte population outnumbered the erythrocytes. Notable expression of ICAM-1 on endothelial cell surface was detected by immunohistochemistry in vessels with sequestered cells but not in unaffected vessels. These changes are identical to those of the murine model of the disease, in which cell-mediated immune mechanisms and TNF have been implicated. In vitro, ICAM-1 has been shown to be a potential ligand for P. falciparum-infected erythrocytes. In malaria patients, high serum TNF levels, which have been detected in close correlation with disease severity, may thus favor adhesion to endothelial cells of either red or white blood cells via enhanced ICAM-1 expression. The present observations are further evidence for a role of cell-mediated immunity in the pathogenesis of human cerebral malaria.

Dysembryoplastic neuroepithelial tumour as a cause of coma.

Dysembryoplastic neuroepithelial tumour (DNT), a non-evolutive intracranial cortical lesion, is generally associated with epileptic seizures principally among youths. A case of a DNT which presented with uncommon clinical features, characterized by severe intracranial hypertension and progressive blindness warranting emergency surgery, is documented. In addition to the classical radiological and neuropathological features characteristic of DNTs there was a large haemorrhagic cystic haematoma as a result of repeated dissections and/or ruptures of the abnormal vessels in areas, explaining some of the atypical clinical symptoms. Therefore the need for a regular, careful clinical and radiological follow-up of cases with cystic DNTs is strongly recommended.

Sertoli cell adenoma in Morris syndrome.

An unusually large Sertoli cell adenoma was detected in a patient with Morris syndrome and there is a description of the uncommon hormonal data found in this particular case which are not typical for this kind of neoplasia. The patient is alive and well at the present time which is now three years after surgical intervention.

[Contribution of laparoscopy-biopsy to the diagnosis of primary liver neoplasms]. / Contributo della laparoscopia-biopsia alla diagnosi delle neoplasie primitive del fegato

After a review of the literature, personal observations of primary benign and malignant tumours of the liver, studied using laparoscopic biopsy are presented and the importance of this examination in the early diagnosis of primary hepatic tumours is stressed. This examination, particularly when associated with biopsy, is very useful since it reduces diagnosis time with little or no risk to the patient with a high percentage of positive results.

Sertoli cell adenoma in Morris syndrome.

An unusually large Sertoli cell adenoma was detected in a patient with Morris syndrome and there is a description of the uncommon hormonal data found in this particular case which are not typical for this kind of neoplasia. The patient is alive and well at the present time which is now three years after surgical intervention.

Inflammatory fibroid polyp of the gastrointestinal tract: possible origin in myofibroblasts? A study of twelve cases.

Inflammatory fibroid polyp (eosinophilic granuloma) is a rare benign condition found in the gastro-intestinal tract. Approximately 200 cases have been described in the literature. It is generally considered as a granulation tissue of a peculiar type; however its cellular composition remains controversial. Either macrophages, fibroblasts or myofibroblasts have been proposed as its main cellular constituents. A retrospective study of 12 cases (8 gastric and 4 intestinal locations) based on histology, immuno-histochemistry and electron microscopy, would suggest that this condition is truly a peculiar type of granulation tissue made up primarily of myofibroblasts.

[Intramedullary meningeal melanocytoma]. / Mélanocytome méningé intramédullaire.

A primary benign melanotic tumour was resected twice in the thoracic spinal cord of a 49-year-old woman. The patient had complained of low back pains, obstipation and mictional urgency for two years. She developed a partial Brown-Sequard's syndrome at th10-th12 level. The tumour showed the histological and immunohistochemical features of a meningeal melanocytoma. The following up was marked by tumoral seeding in the lumbosacral region and later in the cerebral hemispheres, which lead to death 4 years after the diagnosis. This is a survey of the clinical and morphological characteristics of meningeal melanocytoma and demonstrates the risk of secondary dissemination of this primary benign tumour.

[Transthoracic transvertebral approach for resection of an anteriorly located, calcified meningioma. Case report]. / Abord transthoracique transvertébral pour résection d'un méningiome calcifié de situation antérieure. A propos d'un cas.

We report the case of a 61-year-old woman, who developed progressive paraparesia over a period of 8 months. Conventional X-rays of the thoracic spine showed an intra-spinal calcified lesion at T10. On CT-scan and MRI, the lesion appeared anterior to the cord, thus making a posterior approach hazardous. Total resection of this calcified meningioma was achieved through a right transthoracic transcorporeal approach, under close monitoring of the somatosensory evoked potentials. Despite a delayed pseudomeningocele formation requiring an additional thoracotomy, outcome after 7 years is excellent with no residual neurological deficit. No recurrence was seen on a CT-scan performed two years after the surgery. Calcified anterior meningiomas of the spine are rare lesions. Surgical outcome has been unfavorable for a long time in relation with posterior or postero-lateral approaches. Although anterior transthoracic procedures are routinely performed for extradural spinal lesions, this approach is rarely used for intradural lesions. A calcified anterior spinal thoracic meningioma should be managed like the more frequent calcified thoracic disk hernia, despite the increased risk of cerebrospinal fluid effusion requiring subsequent repair.