A new form of leukoencephalopathy with calcifications and cysts with nonrecessive inheritance and absence of gadolinium enhancement

摘要

A 37-year-old patient with tobacco as the only vascular risk factor presented with recent progressive attention deficit. Clinical examination showed generalized hyperreflexia and bilateral Babinski sign. Head circumference was 53 cm. Neuropsychological testing confirmed executive dysfunction associated with slight memory loss. Brain CT showed extensive frontal and parietal white matter changes together with some small juxtacortical calcifications (fig. 1). MRI confirmed extensive frontal and parietal leukoencephalopathy and juxtacortical calcifications, and revealed multiple small cysts inside the areas of white matter changes, respecting the basal ganglia (fig. 1). There was no gadolinium enhancement. T_2~* sequences did not find any microbleeds.