摘要:

A patient with migraine developed ophthalmoplegia, hemiparesis and cheiro-oral syndrome on the left side. T2-weighted MRI showed infarcts in the tegmentum of bilateral midbrains and right pons but no lesion in the cerebral or cerebellar hemisphere. Infarction in the tegmentum of brainstem secondary to the involvement of perforating arteries has not been reported in basilar artery migraine until now.

ISSN:0014-3022    

DOI:10.1159/000116931

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Xeroderma pigmentosum is a genetically heterogeneous disease caused by DNA repair defects resulting in skin cancer and, in some patients, a primary neuronal degeneration which has in all previous reports become symptomatic prior to age 21 years. A 47-year-old xeroderma pigmentosum patient is described who, although neurologically asymptomatic, has sensorineural hearing loss together with clinical signs and electrophysiologic evidence of a developing peripheral neuropathy. This case suggests that defective DNA repair may cause neurodegeneration in adults as well as in children.

ISSN:0014-3022    

DOI:10.1159/000116932

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

We report the case of a 24-year-old woman with HIV-seropositivity, who developed a clinical picture of pseudotumor cerebri, an association not previously described. The patient improved with the use of acetazolamide. We suggest the possible existence of this disorder in HIV-infected patients with persistent headaches, visual deficits and/or extraocular muscle palsies.

ISSN:0014-3022    

DOI:10.1159/000116933

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

A patient experienced an axonomyelinic peripheral neuropathy during a long-term allopurinol treatment. The symptoms and signs regressed after drug withdrawal, and the nerve conduction velocities and distal latencies improved. The incidence of allopurinol-induced peripheral neuropathy is very low. Thus, facilitatory factors have to be sought.

ISSN:0014-3022    

DOI:10.1159/000116934

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

The neuropsychological deficits in 5 patients with chronic and MRI-proven unilateral infarctions in the perfusion teritory of the paramedian thalamic arteries were studied. All patients showed deficits pointing to a dysfunction of frontotemporal hemispheric structures on the side of the thalamic lesion. However, 4 patients revealed additionally neuropsychological deficits pointing to a dysfunction of frontotemporal hemispheric structures overlying the nonaffected thalamus. The contralateral deficits showed (in 4 patients) signs of temporal and (in 3 patients) frontal lobe dysfunction. It is suggested that the bilaterality of the neuropsychological deficits results from additional contralateral thalamic lesions not detected by MRI and/or from bilateral cortical hypometabolism.

ISSN:0014-3022    

DOI:10.1159/000116935

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Thirty-two patients with spasmodic torticollis were assessed quantitatively for posture deformity, tremor and range of neck movement, and qualitatively for pain and global subjective disability. All patients were then treated with intramuscular botulinum toxin injections into appropriate neck muscles. Fifty-three treatments were administered using dosages of toxin in the range of 50-100 U per muscle. The maximum dose administered at a single sitting was 280 U. The progress of the patients was assessed during an 18-month period. Seventy-five percent of patients showed documented improvement in both subjective and objective parameters and were considered treatment successes. Pain improved in 65%, posture in 65%, tremor in 50% and range in 46%. The side effects that occurred were transient and included fatigue, dysphagia, neck weakness, hoarseness and local pain. This study demonstrates that treatment with botulinum toxin is of significant benefit for the majority of patients with spasmodic torticollis.

ISSN:0014-3022    

DOI:10.1159/000116936

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

A 28-year-old male with glycogenosis type V associated with continuous hyperuricemia during mild daily activities is reported. An aerobic exercise test using a bicycle ergometer revealed that purine metabolites, i.e. ammonia, ino-sine, hypoxanthine and xanthine, were transiently increased by the exercise and that a subsequent increment in uric acid continued until the following day. The accelerated purine degradation by the muscle exercise was thus shown to be able to cause the overt hyperuricemia in a patient with glycogenosis type V. Therapeutic use of fructose for glycogenosis was disappointing due to fructose-induced hyperuricemia. A search for myogenic hyperuricemia is essential for therapeutic trials.

ISSN:0014-3022    

DOI:10.1159/000116937

出版商:S. Karger AG    

年代:1993

数据来源: Karger

ISSN:0014-3022    

DOI:10.1159/000203092

出版商:S. Karger AG    

年代:1913

数据来源: Karger

摘要:

Three cases of myophosphorylase deficiency with unusual clinical expression are presented. The 1 st had clinical characteristics suggesting a mild congenital myopathy, and the patient never experienced cramps or myalgias. The 2nd had a slowly progressive myopathy without cramps or myoglobinuria which was detected by chance. The 3rd presented with myoglobinuria and acute renal failure, unrelated to a triggering effort, and with permanent weakness and wasting. In all cases, muscle biopsy demonstrated a vacuolar myopathy with free glycogen increase and absence of myophosphorylase activity, confirmed by biochemical assays. The cases confirm the wide clinical spectrum of McArdle disease.

ISSN:0014-3022    

DOI:10.1159/000116938

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

A 48-year-old woman was referred from Zaire with suspected rabies encephalitis. Survival was 34 days after the onset of symptoms and the diagnosis of rabies was ultimately proven after brain autopsy. Serial neurophysiological investigations, including EEG and multimodality evoked potentials and radiological examinations (cerebral magnetic resonance imaging and computed tomodensitometry) were performed. Whereas the clinical findings and EEG were compatible with brain death at the end of the course, this diagnosis could be definitely ruled out by multimodality evoked potentials, magnetic resonance imaging and autopsy. The validity of multimodality evoked potentials is discussed in this particular setting.

ISSN:0014-3022    

DOI:10.1159/000116939

出版商:S. Karger AG    

年代:1993

数据来源: Karger