1/31. giant axonal neuropathy with predominant central nervous system manifestations.The authors describe a 25-year-old woman with giant axonal neuropathy (GAN) and severe CNS involvement. She had been admitted to hospital with generalized seizures, and had gait disturbances followed by progressive mental deterioration since childhood. Neurological examination revealed mental retardation, scanning speech, cerebellar dysfunction, pyramidal signs, mainly in the lower extremities, and peripheral sensory neuropathy. Sensory nerve conduction velocity was decreased; brain CT and MRI showed diffuse demyelination. sural nerve biopsy revealed characteristic signs of GAN. The patient's older sister had died at the age of 23, after having had similar neurological disturbances since childhood. This case illustrates an unfamiliar presentation of GAN, characterized by mild sensory neuropathy and serve CNS involvement, including seizures.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
2/31. thalidomide neuropathy in childhood.thalidomide was withdrawn from world markets in 1961 following recognition of its teratogenic effects. More recently, however, thalidomide treatment has been reintroduced to adult and paediatric practice for a variety of dermatologic, immunologic, rheumatologic and neoplastic disorders. Neuropathy is a significant side effect of thalidomide therapy, which may limit its clinical use. We report four cases of sensorimotor axonal neuropathy in children aged 10-15 years, treated with thalidomide for myxopapillary ependymoma, Crohn's disease and recurrent giant aphthous ulceration. thalidomide neuropathy is often associated with proximal weakness and may progress even after discontinuation of treatment, in the phenomenon of 'coasting'. Children treated with thalidomide should undergo regular neurophysiologic studies in order to detect presymptomatic or progressive peripheral neuropathy.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
3/31. Peripheral nerve changes induced by methyl n-butyl ketone and potentiation by methyl ethyl ketone.A study of the sequential morphological changes in the peripheral nerve induced by experimental inhalation exposure of methyl n-butyl ketone (MBK) revealed that the earliest change was an increase in the number of neurofilaments in the large myelinated nerve fibers. This change occurred prior to axonal swelling or myelin thinning. As the duration of exposure lengthened the number of neurofilaments gradually increased and ultimately produced axonal swelling with secondary thinning of the myelin sheath. This appears to be the pathogenesis of the "giant axonal" neuropathy. Another change observed early in this neuropathy was the presence of inpouchings of the myelin sheath, which also increased in number in parallel to the duration of exposure. A careful study of the sequential changes in the entire motor unit did not show a predilection for early morphological changes at the axon terminal. Abnormalities at the neuromuscular junction occurred only after a full spectrum of changes were seen in the main nerve trunk, nerve roots and intramuscular nerves. An important observation was the marked potentiation of peripheral neurotoxicity observed when animals were exposed to MBK in combination with methyl ethyl ketone (MEK) at a ratio of 1:5, MBK:MEK. The latter solvent showed no neurotoxic effect alone. This might help explain a recent outbreak of a polyneuropathy affecting many workers. One further observation was that the sural nerve of a patient with prolonged exposure to MBK showed changes similar to those induced experimentally.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
4/31. Gian axonal neuropathy--a generalized disorder of cytoplasmic microfilament formation.light and electron microscopy of a sural nerve biopsy obtained from a patient with giant axonal neuropathy revealed the presence of numerous axonal spheroids which were composed chiefly of neurofilaments. Large discrete masses of cytoplasmic microfilaments were also observed in endoneurial fibroblasts, endothelial cells, schwann cells, perineurial cells and cultured skin fibroblasts. Neuronal degeneration in giant axonal neuropathy appears to be part of a generalized disorder of cytoplasmic microfilament formation.- - - - - - - - - - ranking = 2keywords = giant (Clic here for more details about this article) |
5/31. Giant lymph-node hyperplasia, plasma-cell type, of the mediastinum, with peripheral neuropathy.A case of mediastinal giant lymph-node hyperplasia, plasma-cell type, is described. The patient had progressive peripheral neuropathy for which no apparent cause was found. Giant lymph-node hyperplasia with associated peripheral neuropathy has not been reported previously.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
6/31. Giant axonal swelling in "huffer's" neuropathy.A young man with a long history of "huffing" of lacquer thinner developed toxic peripheral neuropathy. Clinical improvement occurred several weeks after cessation of exposure. Substantial slowing in nerve conduction was noted. sural nerve biopsy specimen showed (1) giant axonal swelling, (2) axonal degeneration, and (3) an increased paranodal gap. We believe that "huffer's" neuropathy is a primary axonal neuropathy with secondary demyelination.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
7/31. "giant axonal neuropathy" caused by industrial chemicals: neurofilamentous axonal masses in man.Symmetrical polyneuropathy developed in two patients after they had been in contact with acrylamide and methyl n-butyl ketone, respectively. In sural nerve biopsy material from both patients, electron microscopy showed frequent focal axonal swellings containing masses of neurofilaments. Some axons undergoing axonal degeneration also were seen. These morphologic features are identical to those produced in experimental animals after exposure to these chemicals and are similar to those found in n-hexane neuropathy and in the three reported cases of giant axonal neuropathy. sural nerve biopsy is an important diagnostic test in identifying cases of peripheral neuropathy caused by these chemicals.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
8/31. abducens nerve paralysis due to giant aneurysm in the medial carotid canal. Case report.A case of a giant aneurysm located in the medial part of the carotid canal is reported. The patient had isolated abducens nerve paralysis that completely resolved after common carotid ligation in the neck.- - - - - - - - - - ranking = 5keywords = giant (Clic here for more details about this article) |
9/31. giant axonal neuropathy. Report of a case with normal hair.A further case of giant axonal neuropathy is described. The diagnosis was made by sural nerve biopsy in a boy presenting signs of a progressive spinocerebellar syndrome with polyneuropathy. Ultrastructurally a severe abnormality of this peripheral nerve, with loss of thick myelinated nerve fibers and the presence of giant axonal swellings was evident. The axonal swellings appeared to be caused by an accumulation of filaments which were also present in schwann cells, as well as in endothelial and perineurial cells, justifying the term of "generalized microfibrillar hyperplasia". It is most remarkable that the patient's hair was not unusual, in contrast to the previously reported cases who had "kinky hair".- - - - - - - - - - ranking = 2keywords = giant (Clic here for more details about this article) |
10/31. Some histological aspects of amyloid polyneuropathy.Two sporadic cases of amyloid polyneuropathy with clinical features corresponding to the Portuguese type of this disease were studied. Histological examination of sural nerve demonstrated a marked loss of myelinated and unmyelinated fibres in the case 1 due to axonal degeneration, high content of fibers with segmental demyelination and the occurrence of several enlarged axons filled with the 10 nm filaments (so-called giant axons). In the case 2 there was total loss of unmyelinated axons and myelinated fibers were nearly completely lacking. In the development of changes in the myelinated fibers their direct compression by amyloid deposits seems to play an important role. It leads to the appearance of both axonal degeneration and segmental demyelination. The latter seems to be due to local compression and it may involved many fibers. In the light of observations reported by other authors the mechanism of changes developing in unmuelinated fibers is explained by the presence of changes in the cells of posterior root ganglia, however the question whether some abnormalities seen in unmyelinated axons could not be related to the pressure exerted by amyloid deposits directly to these fibers, remains open.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
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