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N Rizzuto

Publications and source records attributed to N Rizzuto.

195 records · Page 11Linked to original sources
PubMedDate not supplied

[Hypertrophic neuropathies beginning in infancy: a study of 3 cases (author's transl)].

The genetical forms of hypertrophic neuropathies, inherited either as recessive or autosomal dominant trait, are classified, according to Dyck (1975), as HMSN type I, III, and IV. Sporadic cases are also reported. We studied three patients, one with autosomal recessive inheritance, and two without family history, who had the following common features: --onset of symptoms before the age to two years; --slowly progressive course; --peroneal muscular atrophy with absent tendon reflexes; --reduction of MCV and SCV; --decreased number of myelinated fibers; --schwannian cell hyperplasia, with onion bulb complexes formation; --absence of aspects of hypomyelination; --increased number of collagen pockets and denervated Schwann-Remak cells or processes. On light microscopy, multilamellated onion bulbs of large size were found in a very high percentage in case 1, while there were either simple in type or in a lower percentage in case 2. In the third, case, onion bulbs were recognized only on electron microscopy. It is known that in the various kinships affected with type I of HMSN, the pathological changes of peripheral nerves differ greatly. Therefore, despite early onset of symptoms and varying degree of severity of nerve changes, all three cases have been classified within the group of HMSN type I. The different severity of nerve damage may suggest the possibility of a genetical heterogeneity in this disorder.

Adolescent↗
PubMedDate not supplied

Amyotrophy in Shy-Drager syndrome.

Five cases of Shy-Drager Syndrome (SDS) are reported. All patients showed marked muscular wasting often with fasciculation and without sensory loss. Clinical, electromyographic and in one case, pathological findings in the spinal cord indicated a lesion at the level of the anterior born cell. An extensive review of the literature disclosed a significant number of cases of SDS displaying amyotrophy referable to a spinal lesions.

Autonomic Nervous System Diseases↗
PubMedDate not supplied

[Histopathologic and ultrastructural study of various amputation neuromas].

The results of a light and electron microscopy study of seven amputation neuromas are presented. The neuromas were removed during surgery for traumatic lesions of limbs. The histological study showed a complete disappearance of the nerve architecture at the neuroma level, where the fibres are collected in small bundles, enveloped in an abnormal perineural sheath, surrounded by an overgrowing connective tissue. In two cases a partial and incomplete reinnervation of the distal stump was found. The ultrastructural study shows abnormalities of the nervous fibers, both of the axon and of the relationships between the axonal part and the Schwann cell. The results of our data in man are compared to nerve regeneration patterns recently investigated in experimental models.

Adolescent↗
PubMedDate not supplied

Peripheral nerve vasculitis: a clinico-pathological study.

The clinico-pathological findings of 20 nerve biopsies consecutively performed at the neuropathological laboratory of Verona University Hospital were reviewed in order to establish the most important clinical manifestations of peripheral nerve vasculitis and to determine the role of biopsy in corroborating the diagnosis. Dystal sensori motor polyneuropathy was the most frequent clinical manifestation, confirming previous clinico-pathological studies and suggesting a more widespread pathological process than usually supposed. The biopsy was the basis of the diagnosis since it established or substantially modified the clinical diagnosis. Therefore we suggest that in cases with suspected vasculitis of the peripheral nerve the biopsy makes a useful contribution to diagnosis.

Adult↗
PubMedDate not supplied

Cytoskeletal changes and ubiquitin expression in dystrophic axons of Seitelberger's disease.

Central nervous system specimens of 4 cases of Infantile Neuroaxonal Dystrophy (Seitelberger's disease) were processed for Bodian's silver stain and for immunostaining with antibodies against neurofilaments (NF), tubulin and ubiquitin (UBQ). Reactivity to NF and UBQ was restricted to spheroids of small size; swellings larger than 30 mu were negative, in spite of their positivity to Bodian's silver stain. Reactivity to tubulin was evident only in normal fibers, whereas no positive material was observed in dystrophic axons. These findings suggest that loss of microtubules (MT) and denaturation of NF might play a crucial role in the mechanisms responsible for the formation of axonal spheroids; in addition the focal activation of the UBQ system suggests an attempt of the neuron to remove abnormal material even at sites remote from the perikaryon.

Axons↗