Doppler diagnosis in cases of acute stroke.

Ultrasound techniques are employed increasingly for the evaluation of patients with cerebrovascular disease. We determined the accuracy of carotid Doppler ultrasonography, which incorporated spectral analysis and periorbital directional Doppler assessment, by comparison with conventional or digital-subtraction arteriography in 93 patients (186 vessels). We also reviewed our experience with the Doppler technique in consecutive patients who were admitted to hospital with established carotid-territory stroke. The Doppler technique had a sensitivity of 93% and a specificity of 97% as a screening test for the presence of carotid stenosis, and a high level of precision. The arteriography rate in patients with completed stroke was 40% before the introduction of Doppler ultrasonography but decreased to 24% after its introduction, and to 16% in the last 100 cases. The proportion of cases in whom an underlying cause for stroke could not be identified decreased from 31% of cases to 21% of cases. Extracranial carotid stenosis was implicated in only 22 of the last 100 patients with carotid-territory stroke. Doppler ultrasonography is a valuable diagnostic tool in patients with completed stroke. It aids in the selection of patients for arteriography and provides clues to the pathogenesis of stroke in patients in whom arteriography is inappropriate.

Subcortical arteriosclerotic encephalopathy: Binswanger's disease.

Binswanger, in his 1894 dissertation on the differential diagnosis of general paresis of the insane, described a slowly progressive dementia associated with macroscopic loss of white matter. In recent years interest in Binswanger's disease was rekindled with CT demonstration of extensive white matter low densities in some patients. To define the clinical spectrum, we reviewed 22 consecutive cases in which the CT appearances suggested a diagnosis of Binswanger's disease. Two patients had focal neurological deficits at presentation, but recent anoxic or hypoglycaemic insults could not be excluded as the cause of the CT abnormalities. The 20 remaining patients were demented and showed variable combinations of corticobulbar dysfunction and gait dyspraxia. The duration of symptoms ranged from a few months to several years. Sixty per cent of this group gave a history of discrete stroke events and focal cortical and/or lacunar infarcts were a frequent CT finding. Binswanger's disease is probably due to chronic or acute-on-chronic white matter ischaemia. The association with lacunar and cortical infarctions suggests that a combination of large and small vessel disease produces diffuse ischaemia maximal in white matter watershed zones. Binswanger's disease is clinically differentiated from multi-infarct dementia by its time course.

Adrenomyeloneuropathy--clinical and biochemical diagnosis.

Adrenomyeloneuropathy (AMN) is an X-linked storage disease of very-long-chain fatty acids that presents as primary adrenocortical failure combined with spastic paraparesis and peripheral neuropathy. This disorder was diagnosed in three unrelated adult males. Definitive diagnosis was made by finding elevated very-long-chain fatty acids in plasma and skin biopsy samples. Biochemical characterisation of this disease has elucidated its genetics, clarified its relationship with adrenoleukodystrophy of children and other phenotypic variants, and allowed heterozygote identification, accurate genetic counselling and prenatal diagnosis.