A. Lechi

Brain pathology induced by infection with the human immunodeficiency virus (HIV)

SummaryNeuropathological examination of brain tissue of 100 patients with infection by the human immunodeficiency virus (HIV), including 98 with clinically manifest acquired immune deficiency syndrome (AIDS), revealed distinct multifocal-disseminated and diffuse brain tissue lesions, which can be regarded as HIV-induced brain lessions: multifocal giant cell encephalitis (MGCE; 4) and progressive diffuse leukoencephalopathy (PDL; 25). These lesions were found in 38 brains, and in 17 in absence of infectious, necrotizing or inflammatory changes of other types. In 13 brains, a combination of MGCE with PDL was seen, suggesting a spectrum of HIV-induced brain lesions. MGCE is characterized by perivascular accumulations predominantly of rod cells, monohistiocytes and macrophages, all of which are strongly labeled with a monoclonal antibody to macrophages. Most conspicuous are multinucleated giant cells which are also labeled by anti-macrophage antibody, and which can be regarded as evidence of the local presence of HIV, as confirmed by electron microscopical detection of HIV particles in four MGCE brains, and by immunocytochemical detection of HIV proteins in two MGCE brains. PDL is characterized by a triad: diffuse myelin loss, astroglial proliferation, and infiltration by mono- and multinucleated macrophages. HIV-induced lesions can be morphologically differentiated from histopathological brain lesions known in immunosuppression, including what is called here nodular encephalitis [“subacute encephalitis” of the literature, in most cases attributable to cytomegalovirus (CMV) or toxoplasmosis], by their characteristic histopathology including the hallmark presence of multinucleated giant cells, by direct immunocytochemical and electron microscopical demonstration of HIV in the lesions, and by the absence of opportunistic agents (bacteria, fungi, Toxoplasma, CMV, HSV or papovaviruses). Diffuse poliodystrophy (diffuse proliferation of astroglia with swollen nuclei, occasionally minor neuronal loss and rod cell proliferation) was found in the cerebral cortex and other gray matter in half of all brains, including cases with gyral atrophy, and may be another correlate of HIV damage to the brain. Morphological delineation of HIV-induced brain lesions is a necessary prerequisite for a meaningful clinical definition of HIV-induced cerebral disease.

Neuronal loss in the basal nucleus of meynert in progressive supranuclear palsy

SummaryA morphometric study of the basal nucleus of Meynert (bnM) has been performed in a 70-year-old man with a 4-year history of pathologically confirmed progressive supranuclear palsy (PSP). An important neuronal loss (52%) was demonstrated in the bnM. This finding has not been previously documented with morphometric methods in PSP, but the involvement of the bnM is well known in other related conditions, i.e., Parkinsons disease. Alzheimers disease, and Parkinson-dementia complex of Guam. Our findings yield support to the view that the involvement of the bnM, a nucleus with complex connections with various subcortical structures and diffuse cholinergic projections on the neocortex, could play an important role in the physiopathogeny of subcortical dementia.

Successful treatment of subacute cerebellar degeneration in ovarian carcinoma with plasmapheresis a case report

Subacute cerebellar degeneration is a rare complication of some neoplasms, and is generally resistant to therapy. A case of subacute cerebellar degeneration in a 50‐year‐old woman with a Stage II grade 3 serous ovarian adenocarcinoma is reported. The onset of the neurologic symptoms preceded the diagnosis of cancer and progressively worsened during and after four cycles of chemotherapy. A quick, partial improvement of the neurologic syndrome was documented after three weekly treatments with plasmapheresis. The contribution of circulating factors in inducing subacute cerebellar degeneration can be postulated. A trial using this new type of treatment should be performed in patients who have this therapeutically refractory clinical condition.

Anderson-Fabry's Disease: Neuropathological and Neurochemical Investigation

SummaryA clinical, neuropathological and neurochemical study of a case of Anderson-Fabrys disease is described.The clinical course mainly consisted of repeated icuts with major involvement of the CNS.The neuropathological examination is dominated by severe alterations in the cerebral vessels due to glycolipid deposits on the walls, with reduction or occlusion of the lumen. This is correlated with secondary ischaemic foci scattered throughout the cortex as well as through the white matter. In addition, the cells of the cerebral cortex, thalamus, basal ganglia, amygdala, cerebellar and olivary nuclei show a marked accumulation of lipofuscin.Biochemical examination reveals a threefold increase in galactolipids due to the specific α-galactosidase deficiency. Cholesterol is reduced secondarily to ischaemic myelin damage. Glycosaminoglycans uronic acid is increased in cytosol and membrane-bound fractions which could be related to reactive gliosis. Glycoprotein sugars show a decrease in N-acetyl-neuraminic acid and fucose as well as an increase in hexosamines and hexoses in membrane-bound fraction, while in cytosol fraction all sugars are increased.This suggests that the α-galactosidase deficiency can alter not only the glycolipid but also the glycoprotein metabolism, resulting in a higher presence of hexosamines and hexoses-rich glycoproteins.

Fabry's disease with familial lymphedema of the lower limbs. Case report and family study

The case of a 49-year-old man with Fabrys disease (FD), confirmed by histopathological findings of kidney and skin biopsies and enzymatic studies, is reported. Clinical symptoms mainly consisted in severe neurological involvement, and in conspicuous lymphedema of the lower limbs. Two decreased brothers of the patient were also affected with symptons strongly suggesting FD, as well as the lymphedema of the lower limbs. On the basis of these data, the association of FD with familial lymphedema of the lower limbs is discussed: a lipid accumulation in the lymphatic as well as the blood vessel wall is proposed as a possible explanation; the hypothesis of an inborn error in the development of the lymphatic system, controlled by a gene closedly associated with the FD gene on the same chromosome can also be advanced.

Orthochromatic leukodystrophy with pigmented glial cells. AN ADULT CASE WITH CLINICAL‐ANATOMICAL STUDY

The case history is reported of a woman who died at the age of 36, at the conclusion of 11 years progressive neurological and psychiatric symptomatology.

Unilateral trismus caused by vertebrobasilar dolichoectasia.

Vertebrobasilar dolichoectasia is a relatively uncommon pathological entity and generally asymptomatic. We report a quite unusual case of unilateral motor trigeminal involvement with trismus, due to VD. Apart from tetanus or local morbid conditions of the mouth, trismus is often attributed to disturbed programming and co-ordination of the masticatory muscles within the mesencephalic nucleus. The possibility of truncal compression of the trigeminal motor root by vertebrobasilar dolichoectasia being responsible for masseter muscle spasm, in analogy with the pathogenetic mechanisms proposed in hemifacial spasm, is proposed as an alternative explanation in the present case.

Meige Syndrome: a Clinical and EMG Study

2 patients showing oral-facial asymptomatic dyskinesia are reported. Clinically observed involuntary movements are the same as those described by Henry Meige in 1910 for the first time. An outstanding EMG feature is the recording of spontaneous potential bursts, both short and long in duration, that show synchronism when activity is registered from different facial muscles at the same time. Clinical and EMG data allow close comparison between involuntary movements in the course of Meige syndrome and idiopathic hemifacial spasm.

Progressive Supranuclear Palsy in the Course of Subclavian Steal Syndrome

A 70-year-old man manifested during four years a progressive clinical picture consisting in palsy of gaze, axial rigidity, disorders of standing and gait, dysarthria, dysphagia. Neuroradiological investigations demonstrated proximal thrombosis of the left subclavian artery with subclavian steal. At necropsy, degenerative changes in several areas of the basal ganglia and brain stem, with presence of globose neurofibrillary tangles, were found, consistently with the pathologic pattern of the Progressive Supranuclear Palsy (PSP). The association of PSP and subclavian steal syndrome has not been previously reported, to our knowledge. We hypothesize that chronic ischemia, due to subclavian steal syndrome, in the vertebral basilar system and its watershed versus carotid system may have favoured the appearance, in these same areas, of the changes of the PSP.

Myokymia in the Course of Peripheral Idiopathic Facial Palsy

5 cases of myokymia from a total of 31 patients showing peripheral ‘idiopathic’ facial palsy are reported. Myokymia began during the acute phase of palsy and abruptly disappeared during reinnervation. These findings lead us to consider damage of the facial nerve axon along its bony channel as a possible source for myokymia.