1/12. Benign monoclonal IgAK gammopathy associated with polyneuropathy and dysautonomia.The first case of benign IgAK monoclonal gammopathy associated with peripheral neuropathy is described. Dysautonomia is an unusual, yet prominent, manifestation of neuropathy in this patient. Electrodiagnostic testing and nerve biopsy were compatible with demyelination and axonal loss. myelin sheath, perineural, and endoneural interstitial tissue fixation of anti-IgA and anti-kappa light chains was demonstrated by direct immunofluorescence microscopy. absorption studies utilizing human peripheral nerve myelin resulted in complete removal of the paraprotein band. Analytic procedures with myelin-associated glycoprotein and gangliosides, however, were negative. Based on these findings, an alternative etiology for this neuropathy is hypothesized.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
2/12. Familial neuropathy with dementia, retinitis pigmentosa, and dysautonomia.We studied a 59-year-old woman with dementia, retinitis pigmentosa, sensorimotor neuropathy, and attacks of vomiting associated with blood pressure lability and loss of consciousness. Abnormalities included CT evidence of cerebral atrophy, low IQ, slow central and peripheral nerve conduction velocities, axonal degeneration in sural nerve biopsy, and elevated levels of catecholamines and slow waves in EEG during attacks. Her sister, two brothers, and daughter also had progressive muscle weakness, visual disturbance, and similar vomiting attacks. The hereditary nervous system disorder does not fit any previously described condition.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
3/12. Familial dysautonomia in a non-Jewish girl, with histological evidence of progression in the sural nerve.A case of typical familial dysautonomia (HSN, type III) in a non-Jewish girl is reported. The number of unmyelinated fibres was found to be reduced and sural nerve biopsy showed evidence of past axonal degeneration. There was also marked endoneurial fibrosis and a lack of the largest myelinated fibres. Signs of histological progression not yet described in the sural nerve and other clinical and morphological features could be explained by different penetrance degrees of the disease.- - - - - - - - - - ranking = 3keywords = nerve (Clic here for more details about this article) |
4/12. Familial dysautonomia (Riley-Day syndrome). temporal bone findings and otolaryngological manifestations.Familial dysautonomia, or Riley-Day syndrome, is inherited in an autosomal recessive fashion and occurs almost exclusively in Jewish families. This disorder is characterized by a smooth tongue devoid of fungiform papillae and of taste buds, and is clinically associated with poor taste discrimination. An unsteady gait and dizziness on change in position are also common presenting symptoms. This study reports the histopathological findings of eight temporal bones from four patients with documented familial dysautonomia. For the control series, 13 normal temporal bones were also studied. The most striking finding in the dysautonomic patients was an extreme paucity of geniculate ganglion cells (P less than 0.001). A statistically significant reduction in the number of neurons was also found both in the superior and in the inferior divisions of the vestibular nerve (P less than 0.001). The paucity of the geniculate ganglion cells correlates well with the impairment of the taste in dysautonomic individuals, since the afferent fibers leaving taste buds of the anterior two-thirds of the tongue run via the chorda tympani and have their cell bodies in the geniculate ganglion. Furthermore, the reduction in the number of Scarpa's ganglion cells observed in the dysautonomic patients studied here could account for a poor response to caloric test, positional vertigo and an unsteady gait in this condition.- - - - - - - - - - ranking = 0.5keywords = nerve (Clic here for more details about this article) |
5/12. Congenital autonomic dysfunction with universal pain loss.Three patients who appear to have a previously undescribed congenital neuropathy are described. None is of Ashkenazi Jewish extraction, but each seems to fulfill the clinical diagnostic criteria for familial dysautonomia. All lack overflow tears, fungiform papillae, and deep-tendon reflexes; intradermal administration of histamine did not produce an axon flare. Intraocular instillation of dilute mecholyl produced miosis in the one patient tested. In contrast to patients with familial dysautonomia, the three patients had universal loss of pain sensation, profound hypotonia, and unusual facies. Pathologic examination of the sural nerve in one patient was not consistent with the usual findings in familial dysautonomia. These patients are believed to have a previously undescribed congenital neuropathy.- - - - - - - - - - ranking = 0.5keywords = nerve (Clic here for more details about this article) |
6/12. A new type of non-progressive sensory neuropathy in children with atypical dysautonomia.Three cases of non-progressive, sensory neuropathy with dysautonomia are presented. light and electron microscopy on whole sural nerve biopsies revealed an almost total lack of myelinated nerve fibres. The total fibre count was also reduced as was the total number of Schwann cell nuclei. No degenerative phenomena were seen within the nerve fibres. The aberrations are probably caused by a maldevelopment of the neural crest implying a stunted proliferation and growth of sensory and autonomous neurones as well as a reduced proliferation of schwann cells. Since the morphology and clinical features differ from that in other cases of sensory neuropathy with dysautonomia the three present cases are considered to represent a new type of the disease.- - - - - - - - - - ranking = 1.5keywords = nerve (Clic here for more details about this article) |
7/12. Hereditary neuropathy with upper motor-neuron, visual pathway, and autonomic disorders.A 42-year-old man had progressive distal weakness and muscle atrophy, stocking-type sensory loss, upper motor-neuron and visual pathway lesions, and dysautonomia. Electrodiagnostic tests revealed a generalized sensorimotor peripheral neuropathy that largely involved axons. Low recumbent and upright norepinephrine levels implied a peripheral autonomic defect. sural nerve biopsy showed mild abnormalities of medium and small size fibers. The patient's mother and two brothers were also affected. Other causes of peripheral motor, sensory, and autonomic failure were eliminated. This kinship does not fit any generally accepted classification of hereditary neuropathies.- - - - - - - - - - ranking = 0.5keywords = nerve (Clic here for more details about this article) |
8/12. Congenital dysautonomia. A case with a posterior interhemispheric cyst and microcephaly.A non-Jewish child had a congenital sensory and autonomic neuropathy, cerebral hypoplasia, and a posterior interhemispheric cyst. The clinical findings, neuropathologic changes in the spinal cord, the peripheral nerves, the sensory and autonomic ganglia, as well as sural nerve morphometry, showed similarities, but also differences from familial dysautonomia and hereditary sensory neuropathy, type IV. The relationship of this case to hereditary sensory neuropathies and dysautonomias is discussed, and it is suggested that this is an atypical form of familial dysautonomia with coincidental developmental abnormalities.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
9/12. The anaesthetic management of a patient with familial dysautonomia.Familial dysautonomia is a rare inherited disease of the nervous system, involving mainly peripheral sensory and sympathetic nerves. The autonomic instability is of greatest importance for the anaesthetist although the sensory defect is the most dramatic symptom of the disease. A case report of a 15-year-old girl undergoing two operations for severe scoliosis is presented with a discussion of the anaesthetic problems encountered in this disease.- - - - - - - - - - ranking = 0.5keywords = nerve (Clic here for more details about this article) |
10/12. The number and sizes of reconstructed peripheral autonomic, sensory and motor neurons in a case or dysautonomia.Motor, spinal ganglion, intermediolateral and sympathetic trunk neurons were reconstructed by morphometric sampling of their cell bodies at L5 and T7 segments and at various levels of spinal roots and peripheral nerves in a 31-year-old patient with dysautonomia and compared to reference cases. The patient had strikingly fewer intermediate motoneuron column neurons and intermediate ventral root axons (probably gamma motoneurons), spinal ganglion neurons, preganglionic autonomic neurons and sympathetic trunk neurons that did controls (approximately 10--30% of reference values). The striking agreement between selective absence of intermediate-diameter cytons (Ci) and of intermediate diameter myelinated fibers (Ai), which are thought to be gamma efferent, of L5 motoneuron columns provides further confirmation to our previous suggestion that the Ci peak of motoneuron columns are somas of gamma efferent neurons. The number and size of alpha motoneuron cell bodies and their proximal axons were like those of controls but their distal axons were probably atrophic. This finding probably explains the small reduction in maximum conduction velocity of motor nerve fibers found in this disorder. The brunt of the pathologic process in this disorder has been borne by intermediate and small neurons preferentially.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
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