BMJ case reports
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Case Reports
Biochemical markers of neurodegeneration in hereditary diffuse leucoencephalopathy with spheroids.
Hereditary diffuse leucoencephalopathy with spheroids (HDLS) is a rare autosomal dominantly inherited disease with unknown pathophysiology. Diagnosis of neurodegenerative diseases is increasingly based on biomarkers. Although lumbar puncture is routinely performed during the diagnostic workup of HDLS, reports on alterations of neurodegeneration-specific biochemical markers have not been documented so far. ⋯ Although she was severely impaired and leucoencephalopathy was prominent, only cerebrospinal fluid total-τ was moderately elevated. Other markers of neuronal (NSE) and astrocytic (S100B) damage were within normal range. Therefore, biochemical markers of central nervous system damage are not helpful in the diagnosis of HDLS.
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Case Reports
Hunting mimics and chameleons: diagnostic difficulties in atypical acute ischaemic stroke.
The seemingly straightforward diagnosis of acute ischaemic stroke can be complicated by the presence of conditions presenting similarly to stroke, and atypical strokes presenting with confusing and non-classical signs. We present a diagnostic quest to disentangle the effects of a number of stroke mimics from those of an underlying bilateral cerebrovascular phenomena, where with appropriate treatment of the non-stroke conditions the patient was able to make a near complete neurological recovery.