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Biomedical subjects

E Nardelli

Publications and source records attributed to E Nardelli.

At least 37 records · Page 2Linked to original sources

Möbius-like syndrome due to multiple cerebral abnormalities including hypoplasia of the descending tracts. A case report.

The clinicopathological findings are reported in a child with congenital oculofacial diplegia, paresis of pharyngeal and laryngeal muscles, and concomitant tetraparesis. The constellation of signs and symptoms correlates with a complex picture of maldevelopment, including absence of olfactory bulbs, hippocampal abnormalities, hypoplasia of the corpus callosum and of the cerebellum, and severe hypoplysia of the descending pathways. We stress the role played by the hypoplasia of the descending fibres, with consequent denervation of the cranial nerve nuclei, in producing the Möbius-like picture.

Abnormalities, Multiple↗

Congenital toxoplasmosis: histological and ultrastructural study.

A case of congenital toxoplasmosis is reported in which the patient died at 32 days following seizures, coma and respiratory disturbances. Neuropathological examination showed numerous foci of softening throughout the brain. Histological examination disclosed widespread areas of inflammatory necrosis. Circumscribed areas of granulomatous inflammation were also found. Cysts containing a variable number of microorganisms and toxoplasmas free in the damaged areas were frequently observed. Small calcifications were scattered in the cerebral cortex and basal ganglia. Electron microscopy of postmortem brain specimens demonstrated toxoplasmas at various stages of development. The microorganism is enveloped by a two-layered membrane, the pellicle. Replication occurs in a vacuole inside the host cell. Following replication the newly formed parasites, the trophozoites, are released. Several replications without release may also occur with consequent cyst formation. The motile form of the toxoplasma, the tachyzoite, is fusiform with truncated cone shape of the anterior ending which is the presenting surface modified for host cell penetration. The modality of transplacental transmission and the clinical syndromes associated with toxoplasma infection are discussed. EM even of post mortem material contributes to knowledge of the structure of the parasite and of its life cycles.

Brain↗

Prosopagnosia. Report of four cases.

4 patients with prosopagnosia are described. They presented associated neuropsychological deficits (achromatopsia, topographical disorientation) and visual field defects. In 1 case, gross pathological examination revealed bilateral symmetrical infero-medial occipito-temporal infarcts. In 2 other cases, computer tomography (CT) demonstrated bilateral inferior temporo-occipital infarction. In 1 case CT showed only occipital infarctions in the occipital lobes. This brings to 16 the number of anatomically studied cases of prosopagnosia (8 by necropsy, 8 by CT). In contrast to clinical localization, which often indicates only a right cerebral lesion, all anatomically verified cases of prosopagnosia exhibit bilateral lesions in the posterior cerebral artery distribution.

Adult↗

Peripheral neuropathy associated with immunoglobulin disorders an immunological and ultrastructural study.

Light-, electron microscopic and immunopathological findings in a nerve biopsy of a patient with peripheral neuropathy associated with monoclonal gammopathy are reported. Loss of fibers, Wallerian-like degeneration and segmental demyelination were the most important features observed in light microscopy. In E.M. widening of the peripheral lamellae of myelin sheaths and occasional aspects of hypermyelination were seen. Immunoperoxidase study showed binding of IgM (k light chain) on the myelin sheath. The possible pathogenetic implications of these findings are discussed.

Aged↗

Neurophysiological investigations in two cases of Alexander's disease with infantile onset.

Repeated neurophysiological investigations over a six year period are reported in two children with histologically proven Alexander's leucodystrophy. The EEG alterations were already detectable at an early stage of the disease with subsequent progressive deterioration in both cases. There was no definite abnormality in the ERG-VEP studies which were only carried out in the younger patient. The EEG features in the course of the illness are different from those seen in most of the identified genetically determined neurometabolic diseases as well as in the group of so-called leucodystrophies of similar age groups. However, the EEG-ERG-VEP features are not sufficiently characteristic to be diagnostic.

Age Factors↗

Delayed cerebrovascular consequences of radiation to the neck. A clinicopathologic study of a case.

A man had a stroke 27 years after radiation therapy to the neck for treatment of laryngeal papillomas. There were premonitory symptoms suggesting cerebral ischemia. In contrast to many previously reported cases, in our patient there is a strong relationship between radiation therapy and stroke. Pathoanatomic study of the surgical vascular specimen strongly suggests that radiation is a potentially modifiable cause of delayed stroke.

Adult↗

Striato-nigral degeneration. Report of a case with an unusually short course and multiple system degenerations.

A 50-year-old white woman with an 8-month history of Parkinson's syndrome which did not respond to levodopa therapy was found on pathological examination to have the topographical lesions of striato-nigral degeneration. In addition to those characteristic lesions, an associated degeneration of the optic pathways, from the level of the optic nerve to the geniculo-collicular fibers, of the corticospinal tract and of the olivo-dentate axis, were found. While offering further evidence for the concept of "multiple system degeneration", no pathogenetic relationship either to previous cases of striato-nigral degeneration or to other multiple system degenerations is implied.

Brain↗