摘要:

A 19-year-old patient presented with spastic paraparesis and peripheral neuropathy without clinical or biochemical signs of adrenal insufficiency. The diagnosis of adrenomyeloneuropathy was supported by typical ultrastructural findings in peripheral nerve and endomysial nerve bundles and by a positive family history. Indeed his younger brother died at age 12 from a demyelinating disease of the central nervous system. Cutaneous nerve bundles and postmortem examination limited to the brain demonstrated features specific for adrenoleukodystrophy. The various features of both disorders are discussed. Their occurrence in the same sibship pleads strongly for a very close relationship.

ISSN:0014-3022    

DOI:10.1159/000115163

出版商:S. Karger AG    

年代:1980

数据来源: Karger

摘要:

Continuing the previously published clinical development of a case of adult metachromatic leukodystrophy (MLD), we now describe the terminal phase and death (at 46 years of age) of our patient. The final phase was characterized clinically by progression of generalized peripheral neuropathy, advanced extrapyramidal and pyramidal tract symptomatology, dementia and brainstem dysfunction. First biochemical results show a moderate relative increase (3- to 5-fold) of sulfatides in the frontal lobe white matter but not in the cortex. The analysis of fatty acids in total lipid extract shows a decrease of long-chained fatty acids in favor of short-chained fatty acids, this change is more pronounced in white matter than in the cortex. The clinical course and biochemical results are discussed in relation to previous cases analyzed by us. Epidemiological aspects especially emphasize routine search for MLD amongst patients with neuropsychiatric symptomatology showing unusual psychoses, presenile dementias or unspecific disturbance of motor coordination possibly with electroneurographic evidence of peripheral neuropathy.

ISSN:0014-3022    

DOI:10.1159/000115164

出版商:S. Karger AG    

年代:1980

数据来源: Karger

摘要:

Ultrastructural studies on the central and peripheral nervous system of 2 patients with adult onset metachromatic leukodystrophy (MLD), dead at the ages of 46 and 51 years, showed MLD-specific inclusions, tufaceous and prismatic structures, a wide spectrum of membranous arrangements within lysosomal residual bodies, and the intimate admixture of sulfatides and other membranous material with lipopigments. Oligodendrocytes and Schwann cells were foremost affected but membranous inclusions could also be verified in neuronal perikarya and astrocytes. The varying ultrastructural spectrum of lysosomal residual bodies in adult onset MLD and the association with lipopigments, chiefly in nerve cells, exceed the fine structural observations on late infantile and juvenile MLD and may reflect morphological differences between these subtypes of MLD that are also known from clinical and biochemical observations.

ISSN:0014-3022    

DOI:10.1159/000115165

出版商:S. Karger AG    

年代:1980

数据来源: Karger

摘要:

The epidemiological, clinical, electrophysiological and nerve biopsy findings of 3 cases of n-hexane neuropathy in shoe industry are reported. The disease affects more than 1 person working in the same environment, regardless of their specific role, and occurs in factories where standards of hygiene are low. In the most severe cases the picture of peripheral neuropathy is associated with symptoms suggesting a concurrent involvement of the central nervous system such as dysarthria, disproportionate ataxia of the gait, blurred vision, and sometimes, after the recovery of the peripheral neuropathy, appearance of leg spasticity. Light- and electron microscopic study of peripheral nerve biopsies shows that the toxic produces a primary axonopathy characterized by segmental swellings of the fibers, due to accumulation of filaments. Retraction of the myelin from the node and segmental demyelination are secondary to the axonal changes. Experimental models of hexacarbon neurotoxicity may offer an explanation for the anatomical substrate underlying the symptoms related to the involvement of the central nervous system.

ISSN:0014-3022    

DOI:10.1159/000115166

出版商:S. Karger AG    

年代:1980

数据来源: Karger

摘要:

3 cases are reported, where neuralgic amyotrophy occurred simultaneously in 3 members of one family, living in the same household. Despite the familial occurrence and the simultaneous onset, the clinical pictures were those of the common form of the neuralgic amyotrophy.

ISSN:0014-3022    

DOI:10.1159/000115167

出版商:S. Karger AG    

年代:1980

数据来源: Karger

摘要:

In chronic alcoholic patients with a slight or moderate polyneuropathy the effect of gangliosides at a daily dosage of 20 mg was investigated. A clinical improvement represented by a reappearance of the Achilles reflex and/or marked reduction of hypoaesthesia was found in the treated group. No significant changes in motor function were observed. No significant variation of the electrophysiological examination was found.

ISSN:0014-3022    

DOI:10.1159/000115168

出版商:S. Karger AG    

年代:1980

数据来源: Karger

摘要:

A 71-year-old man developed a facial diplegia following right ophthalmic zoster. Neurological examination also revealed loss of reflexes in the lower limbs with increase of CSF protein. Unusual cases of the Ramsay Hunt syndrome and Guillain-Barre syndrome seen with herpes zoster were reviewed. These cases including our case may suggest that the bilateral involvement or its wider spread throughout nervous tissue can rarely occur in the Ramsay Hunt syndrome and its subgroups.

ISSN:0014-3022    

DOI:10.1159/000115169

出版商:S. Karger AG    

年代:1980

数据来源: Karger

摘要:

EEG findings after sleep deprivation in 452 cases are reported. Effectiveness and specificity of this activating method in the field of epilepsy both in adult and in younger people are emphasized.

ISSN:0014-3022    

DOI:10.1159/000115170

出版商:S. Karger AG    

年代:1980

数据来源: Karger

摘要:

The neurological symptomatology of the basal cell nevus syndrome (Gorlin-Goltz syndrome) is described based on a personal observation and previously published cases. The case presented here, with dominant cerebellar symptomatology, optic atrophy and pyramidal signs, is discussed pathophysiologically either as a primary central nervous manifestation of the basic disturbance or as a secondary cerebral paraneoplastic process.

ISSN:0014-3022    

DOI:10.1159/000115171

出版商:S. Karger AG    

年代:1980

数据来源: Karger

摘要:

By means of a cell-counting technique, it has been shown that patients with Parkinson’s disease underwent decreased density of striatal nerve cell populations. Large cells were more severely affected than small cells. These findings support the view that striatal involvement, although not severe enough to be easily recognized by conventional neuropathological examination, might be responsible of the progressive loss of benefit that most patients experience during chronic L-dopa treatmen

ISSN:0014-3022    

DOI:10.1159/000115172

出版商:S. Karger AG    

年代:1980

数据来源: Karger