A case of hypertensive encephalopathy with prominent brainstem presentation.

A 39-year-old woman developed severe arterial hypertension associated with brainstem hyperintensity in T2-weighted images and hyperintense lesion in the left basal ganglia. Clinical findings were a sudden loss of consciousness, confusion, nausea, vomiting and headache. Rapid treatment of hypertension resulted in clinical and radiological improvement. Rapid identification and appropriate diagnostics are essential, as prompt treatment usually results in reversal of symptoms; permanent neurologic injury or death can occur with treatment delay.

Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease.

Creutzfeldt-Jakob disease (CJD) belongs to a group of chronic, progressive, neurodegenerative disorders that may be hereditary, infectious, or sporadic. Hereditary CJDs are associated with mutations in the PRNP gene on chromosome 20p12-pter. We report a family in which four patients developed classical clinical signs of CJD, including severe cognitive decline, cerebellar signs, myoclonic jerks, and synchronic periodic discharges on electroencephalogram. The E211Q mutation has been identified in family members, but not in 97 sporadic CJD patients referred to the Italian registry of CJD nor in 205 healthy normal subjects, suggesting a pathogenic role for this mutation.