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A case of progressive myoclonic ataxia in an AIDS patient is described, which evolved over a 13 month period. The ataxia persisted as the only clinical finding for several months before the appearance of a severe tetraparesis and cachexia. Throughout the clinical progression, magnetic resonance imaging (MRI) revealed the presence of bilateral, progressive, isolated, and symmetrical lesions involving the red nuclei, subthalami, thalami, lenticular nuclei, and primary motor cortices. Neuropathological examination, supplemented by in situ hybridisation for JC virus DNA, confirmed that the lesions were those of progressive multifocal leucoencephalopathy (PML). The exceptional clinical presentation of PML in this case is the first report of progressive myoclonic ataxia caused by PML. The selective nature of the lesions confirms the role of the dentato-rubral-thalamo-cortical tract in the pathogenesis of progressive myoclonic ataxia. The atypical MRI findings further emphasise the need for expanded diagnostic criteria for PML in AIDS patients and support the use of more aggressive diagnostic methods as new treatments become available. [ABSTRACT FROM AUTHOR]

Five patients with dysembryoplastic neuroepithelial tumour (DNT) showing extensive secondary haemorrhage, a finding not previously associated with these neoplasms, are described. The clinical presentations, neuroimaging findings, and histopathological features of these patients are reviewed. One patient, a previously asymptomatic 12 year old girl, presented with an acute intracerebral haemorrhage into a DNT. A further four young adults with histories of intractable partial and generalised seizures dating from childhood showed significant chronic haemorrhages within DNT, the MRI appearances in one patient giving a false impression of a cavernoma. Histopathology disclosed vascular abnormalities within these tumours which, together with other factors discussed, may have predisposed these tumours to haemorrhage. [ABSTRACT FROM AUTHOR]

Examines the neuropathology of HIV infection in hemophiliacs in England. Prevalence of neuropathology and systemic pathology in the hemophiliacs; Risk of developing fatal intracranial hemorrhage; Causes of death in hemophiliac with HIV.

Objectives: To compare the results of clinical assessment and MRI with neuropathological findings in the diagnosis of HIV and cytomegalovirus (CMV) associated CNS disease.Methods: A retrospective study of 35 patients infected with HIV who were examined at necropsy between four and 70 (median 20) days after neurological assessment and MRI.Results: Of the 35 patients, 19 had diffuse white matter hyperintensity on T2 weighted MRI, six of whom also had focal lesions. Nine other patients had focal white matter lesions and seven had changes in cortical atrophy only. Necropsy in the 19 with diffuse white matter hyperintensity showed HIV leukoencephalopathy (HIVLEP) with encephalitis in 10, CMV encephalitis in three, both HIVLEP/HIV encephalitis and CMV encephalitis in one, lymphoma in three, and non-specific inflammation in two. Necropsy in the 16 other patients without diffuse white matter hyperintensity showed CMV encephalitis in six, HIV encephalitis (without HIVLEP) in two, CMV encephalitis and HIVLEP/HIV encephalitis in one, non-HIV associated abnormalities in five, herpes simplex encephalitis in one, and lymphoma in one. CMV DNA was detected in CSF of five of seven patients with CMV encephalitis and in two of two with CMV associated polyradiculopathy but without CMV encephalitis. Diffuse white matter hyperintensity on MRI had a sensitivity of 100%, a specificity of 66.6%, and a positive predictive value of 58% for diagnosis of HIVLEP.Conclusion: Diffuse white matter hyperintensity on MRI can be due to either HIV or CMV associated pathology or non-specific abnormalities. [ABSTRACT FROM AUTHOR]

Objective: To assess the correlation between findings on radiological and neuropathological examinations of the brain.Methods: The formalin fixed brains of 19 patients who had died of AIDS were examined by MRI and neuropathology.Results: The rate of identification of cerebral atrophy was similar radiologically and neuropathologically. However, only in half of these cases were the two examinations concordant in the diagnosis. Furthermore, in the 15 brains which had radiological diffuse white matter lesions, the underlying pathology was heterogeneous.Conclusions: The possible reasons for the inconsistencies, and their relevance to the interpretation of imaging studies, are discussed. The study suggests that the qualitative identification of atrophy in the postmortem brain is problematical and that diffuse white matter lesions seen on MRI are not indicative of a specific pathological process. [ABSTRACT FROM AUTHOR]

Two unrelated and previously healthy girls, aged 17 and 18, presented with a subacute encephalopathy, visual and sensory symptoms and signs, and prominent seizures that were difficult to control. Brain MRI showed lesions (high signal on T2 weighted images) in the occipital lobes and thalamus; EEG showed slow wave activity with superimposed polyspikes. Inexorable downhill progression led to death in hepatic failure within eight months of onset. Histopathological findings in both patients ((a) chronic hepatitis with prominent bile duct proliferation, fatty change, and fibrosis; (b) in the brain a patchy destruction of the cerebral cortex, predominantly involving striate cortex) were characteristic of progressive neuronal degeneration of childhood with liver disease--Alpers-Huttenlocher syndrome--a rare autosomal recessive disorder usually seen in infants and young children. [ABSTRACT FROM AUTHOR]

Two patients with AIDS and progressive neurological syndromes had necropsies that identified JC virus infection of the cerebral or cerebellar cortex. The unusual presentation of progressive multifocal leukoencephalopathy with grey matter involvement and normal cerebral imaging is discussed. [ABSTRACT FROM AUTHOR]

Three siblings presented with a progressive neurological disorder beginning in the third decade of life and characterised by palatal myoclonus, nystagmus, bulbar weakness and spastic tetraparesis. There was no evidence of intellectual deterioration or seizures. CT scan showed marked brainstem atrophy in two patients and basal ganglia calcification in one. MRI scan in one showed high signal in the brainstem and periventricular region and cerebral biopsy in this patient showed myelin loss and the presence of Rosenthal fibres. A similar disease affected the siblings' mother, maternal aunt and two of the aunt's daughters, suggesting an autosomal dominant mode of transmission of what appears to be a unique genetic disorder. [ABSTRACT FROM AUTHOR]

Three cases are presented in which clinical and radiological features suggested the diagnosis of glioma but surgical biopsy revealed a demyelinating process, with tissue destruction and cyst formation in two. One patient had clinically definite multiple sclerosis. Two had probable acute disseminated encephalomyelitis. Treatment with high dose steroids is appropriate when there is clinical or investigative evidence to suggest the presence of demyelinating disease, before deciding on biopsy. [ABSTRACT FROM AUTHOR]

Two cases of combined HIV-CMV encephalitis are described. One presented with a sixth nerve palsy and a tetraparesis, the other with an internuclear ophthalmoplegia. Pathologically brain stem involvement was predominantly due to CMV. [ABSTRACT FROM AUTHOR]

The clinical and post mortem findings of a case of malignant angioendotheliosis are described. The patient presented with neurological signs attributable to repeated episodes of cerebral and spinal cord infarction. Histological examination showed multifocal intravascular proliferation of mononuclear cells. Immunocytochemical characterisation of these neoplastic cells supports the recent suggestion that this disease represents an unusual form of intravascular lymphoma, which appears to show a predilection for blood vessels of the nervous system. [ABSTRACT FROM AUTHOR]

Objectives: To compare the results of magnetic resonance imaging (MRI) and thallium-201 (201Tl) SPET scanning with laboratory analyses including CSF DNA detection, brain biopsy, and necropsy in the discrimination of cerebral lymphoma and toxoplasmosis in patients with AIDS.Methods: A retrospective study of 32 patients infected with HIV who had focal CNS lesions on MRI as a result of either lymphoma or toxoplasmosis.Results: 18 patients had lymphoma, 12 had toxoplasmosis, and two had both. Toxoplasma IgG antibodies were detected in only seven patients--four with toxoplasmosis, two with lymphoma, and one with both diagnoses. Epstein-Barr virus DNA was detected in CSF of all six patients with lymphoma and none of two with toxoplasmosis. MRI showed multiple lesions in 23 patients, appearances did not discriminate between lymphoma and toxoplasmosis; nine patients had single lesions, of these eight had lymphoma (p = 0.044, two tailed Fisher's exact test) 201Tl SPET showed accumulation in 17 with lymphoma and six with toxoplasmosis (p = 0.034, two tailed Fisher's exact test). Of nine patients with single lesions on MRI and 201Tl SPET with focal accumulation eight had lymphoma. 201Tl SPET uptake ratios of > or = 2.9 were only seen with lymphoma.Conclusion: Knowledge of patients' toxoplasma serostatus does not aid discrimination between lymphoma and toxoplasmosis. Single lesions on MRI with focal accumulation of 201Tl strongly suggest lymphoma. Multiple lesions on MRI with 201Tl SPET uptake ratios > or = 2.9 also suggest lymphoma; uptake ratios less than 2.1 do not aid discrimination. Detection of Epstein-Barr virus DNA in CSF is highly sensitive and specific for cerebral lymphoma. [ABSTRACT FROM AUTHOR]

AIMS--To adapt the polymerase chain reaction (PCR) technique of HIV detection to paraffin wax embedded brain tissue and to compare the results with those obtained using frozen tissue. METHODS--HIV antigen and HIV proviral DNA were detected in specimens of frontal lobe using immunohistochemistry and PCR, respectively. DNA was extracted from fresh tissue using standard methods whereas the technique for extracting DNA from paraffin wax embedded tissue was partly modified. RESULTS--Twenty cases were examined. HIV DNA was detected in 16 cases in frozen specimens. Of these, 15 were also positive when paraffin wax embedded material was analysed. CONCLUSIONS--This study shows that HIV proviral DNA can be detected in formalin fixed, paraffin wax embedded brain tissue by PCR. The results obtained from paraffin wax embedded specimens showed a similar degree of reliability to those from fresh frozen brain. Factors such as fixative, fixation time, and delay in performing post mortem examinations did not seem to influence PCR amplification as positive results were obtained with specimens left in fixative for up to eight months, as well as in cases where post mortem examinations had been delayed for up to four days. [ABSTRACT FROM PUBLISHER]

AIMS: To determine the prevalence of Epstein-Barr virus genome in primary cerebral lymphomas occurring in the absence of immune suppression. METHODS: Forty eight consecutive patients with lymphomas restricted to the central nervous system were identified, all of whom had had neurosurgical biopsies performed at the National Hospitals for Neurology and Neurosurgery, London. Only five patients had some form of underlying immune deficiency; 43 were apparently normal. The tumours were studied with immunohistochemical markers and by in situ hybridisation, using a biotinylated probe to the internal repeat region of Epstein-Barr virus. RESULTS: All the lymphomas were B cell in origin. Tumours from the five immunosuppressed patients all showed hybridisation, as did two of the "spontaneous" tumours. CONCLUSIONS: This is the largest series of cerebral lymphomas so far probed for Epstein-Barr virus genome: as more are examined, it is suggested that a small proportion of the tumours from immunocompetent patients will also contain the virus. [ABSTRACT FROM PUBLISHER]

A 63-year-old diabetic man presented with sinusitis with orbital and intracranial signs progressing over one week, due to zygomycosis. Despite control of the diabetes, surgical excision of infected tissue and antifungal therapy he died in the fifth week of illness. Pathological study showed extensive fungal infiltration of periorbital structures and mycotic thrombosis of many blood vessels with associated necrosis and infarction of fat and extraocular muscles. [ABSTRACT FROM AUTHOR]

A case is reported of a boy who at the age of 14 years developed subacute sclerosing panencephalitis. He deteriorated over a period of 9 months, improved greatly and remained stable for 7 years before relapse. The final deterioration to death extended over 6 years. During the whole period he was examined regularly and the electroencephalogram recorded at 3 to 6 monthly intervals. The brain was examined histologically after death. Electroencephalographic and pathological features are described. [ABSTRACT FROM AUTHOR]

Three members of a family were affected by an autosomal dominant disorder comprising cerebellar ataxia, sensorineural deafness, myoclonus, and peripheral neuropathy. This is the second kindred with this syndrome reported to date. Necropsy of the proband showed loss of cells in the dentate nuclei, a reduced amount of cerebellar white matter, and pallor of the gracile tracts in the spinal cord. [ABSTRACT FROM AUTHOR]

Clinical and neuropathological investigations are presented of the "W" family in which there is a dominant inheritance of slowly progressive cerebellar ataxia and dementia. The disease is of insidious onset and its average duration more than 4 years. Pathological findings included amyloid deposition in cerebellar and cerebral tissue; vascular amyloid in one case; and spongiform encephalopathy and astrocytic hyperplasia typical of Creutzfeldt-Jakob disease. Neuritic plaques of the senile (Alzheimer) type were present to a lesser extent. This study confirms the familial association between cerebral amyloidosis and spongiform encephalopathy. [ABSTRACT FROM AUTHOR]

A patient is described with aspergillus flavus granuloma of the trigeminal ganglion. The patient was effectively treated by surgical excision of most of the infected tissue followed by intensive chemotherapy with amphotericin B and flucytosine. [ABSTRACT FROM AUTHOR]

A British born white man, age 51 years, presented with cerebrovascular insuffciency, and was found radiologically to have moya-moya disease. He also suffered from a let onset type of progressive myopathy. Five months after the first signs of cerebrovascular disease he died of massive cerebellar infarction. At necropsy the brain showed multiple old and recent infarctions. The anterior cerebral, middle cerebral, and posterior communicating arteries showed segments of narrowing and occlusion by delicate connective tissue, with marked thickening and folding of the elastic lamina. Many dilated thin-walled vessels without a muscle layer and with a poorly formed elastic lamina were present in the subarachnoid space, these probably being newly formed collateral vessels. The cause of the occlusive lesions affecting the cerebral arteries is not known but the morphological appearances do not fall within any known aetiology. It seems that moya-moya disease could be regarded as a distinct entity. [ABSTRACT FROM AUTHOR]

A 36 year old woman presented with a subacute brainstem syndrome. MRI showed a solitary, gadolinium enhancing brainstem mass, which on biopsy showed perivenous inflammation and demyelination compatible with acute disseminated encephalomyelitis. [ABSTRACT FROM AUTHOR]

A 36 year old man developed slowly progressive unilateral visual loss due to a cystic lesion of the intraorbital optic nerve. Pathologically the lesion was an epithelium lined cyst entirely within the atrophic nerve. The cyst lining consisted of columnar epithelium partly pseudostratified and ciliated with evidence of mucin secretion, and was immunoactive for cytokeratin but not glial fibrillary acidic protein. This lesion is considered to be similar to neuroenteric cysts that have been reported elsewhere in the nervous system, and the immunocytochemical results are consistent with a heterotopia derived from the primitive ectoderm of the stomatodeum. [ABSTRACT FROM AUTHOR]

HIV-1 DNA extracted from frozen and formalin fixed brain tissue can be detected using PCR. This work has been extended by amplifying, using semiquantitative PCR, HIV DNA extracted from frontal lobe tissue of 16 patients with AIDS (eight positive and eight negative for p24 antigen). DNA was amplified using HIV-1 pol gene digoxigenin labelled primers and detected by chemiluminescence and densitometry. Cloned standards were amplified in parallel for quantification. HIV DNA levels detected in frozen tissue showed a correlation with p24 positivity and the severity of the histological diagnosis. This correlation was less clear in the formalin fixed material. [ABSTRACT FROM PUBLISHER]

A 25 year old British man of previous good health presented with persistent generalised lymphadenopathy and was found to be human immunodeficiency virus (HIV) antibody positive. Three years later after weight loss and loose stools Strongyloides stercoralis was identified in the latter and successfully treated with thiabendazole. Shortly afterwards, a further episode again responded rapidly, but was swiftly followed by a final and fatal illness with severe debility and metabolic imbalance unresponsive to all treatment. Necropsy showed widespread and heavy strongyloidiasis with pulmonary haemorrhage, bronchopneumonia, and meningitis. [ABSTRACT FROM PUBLISHER]

A 66 year old HIV infected male heavy smoker presented with arthralgia, myalgia, and weight loss which was originally ascribed to nucleoside induced mitochondrial toxicity. Despite withdrawal of antiretroviral therapy a proximal myopathy developed. Further investigation excluded malignancy. Polymyositis was diagnosed on muscle biopsy. The patient recovered completely with oral prednisolone. This case highlights the importance of muscle biopsy in HIV infected patients whose myopathy persists despite withdrawal of antiretroviral therapy and the need for thorough investigation of non-specific symptoms in HIV infected patients who are receiving antiretroviral therapy. [ABSTRACT FROM AUTHOR]