Rapid progressive visual decline and visual field defects in two patients with the Heidenhain variant of Creutzfeld-Jakob disease

Abstract Background Heidenhain variant of Creutzfeldt-Jakob (HvCJD) is a rare disease, patients presenting with loss of visual acuity and a decline in visual fields. Case presentation Two patients with rapid loss of visual acuity and declining visual fields presented with homonymic hemianopsia over several weeks. Cranial MRI showed neither stroke nor other morphological changes explaining the severe visual field defects. Neurological examination revealed no pathologies. However, lumbar puncture showed an increase in total protein in cerebrospinal fluid (CSF). Visual field testing revealed further deterioration during follow-up. Several weeks later, patients’ behaviour changed markedly, exhibiting aggression, declining memory function and physical degeneration. The suspected diagnosis was the Heidenhain variant of Creutzfeld-Jakob disease (HvCJD). CSF analysis showed evidence of PrP Sc and 14-3-3 protein. Both patients died within 8 weeks of the CJD diagnosis. Conclusions Loss of visual acuity and a decline in visual fields without corresponding MRI findings and marked changes in behaviour should lead to a diagnosis of HvCJD. Corresponding diagnostic tests should be performed for confirmation. The prognosis for survival is poor and should be immediately communicated to affected patients and their relatives.