Leukoencephalopathy, cerebral calcifications, and cysts in two sisters.

Background: The triad of leukoencephalopathy with cerebral calcifications and cysts is a rare syndrome consisting of these three radiographic findings first described by Labrune et al. in 1996. The inheritance pattern and genetic mutation responsible for this syndrome (if any) have not been determined.

Patient Description: We report the occurrence of this syndrome in siblings. Two sisters presented with leukoencephalopathy, cerebral calcifications, and cysts approximately 10 years apart, one at 18 years with longstanding epilepsy and the other at 25 years with postpartum stroke-like signs. In both individuals, computed tomography revealed calcifications in the basal ganglia and subcortical white matter as well as supratentorial cysts. Magnetic resonance imaging demonstrated diffuse white matter increased T2 signal and bilateral supratentorial cysts with enhancing walls. Both patients underwent biopsy, one an open biopsy and the other a stereotactic biopsy, with sections of the resected tissue revealing gliosis with Rosenthal fibers, myelin loss, and calcifications, plus in the larger sample cystic spaces and thick-walled abnormal blood vessels with hemosiderin deposition in the adjacent tissues.

Conclusion: In these siblings, the triad of radiological findings, histopathologic findings, and lack of extraneurological findings on physical examination suggest an occurrence of familial leukoencephalopathy, cerebral calcifications, and cysts with probable autosomal recessive inheritance.