Leukoencephalopathy with cerebral calcification and cysts: Cases report and literature review

Abstract

Background: Leukoencephalopathy with calcifications and cysts (LCC) is a rare disease in which parenchymal cysts and calcifications within a widespread leukoencephalopathy can cause a broad spectrum of neurological symptoms. We present cases with adult LCC and discuss previously described entities in relevant literature.

Case presentation: Two cases of adult-onset LCC confirmed by clinical presentations, typical neuroimaging and neuropathological findings are reported.

Literature review: A detailed search of all relevant reports published in the English language between 1996 and 2015 via PubMed (http://www.ncbi.nlm.nih.gov/pubmed) was performed, with "Leukoencephalopathy", "cerebral calcifications" and "cysts" as keywords. Including the current cases, we summarized the clinical presentations, neuroimaging features, biopsy features, and genetic features of 38 LCC patients.

Conclusion: Our findings suggested that LCC could be diagnosed by clinical presentations, neuroimaging and gene detection, and biopsy might not be necessary. Therefore, we propose a diagnostic flow chart for neuroimaging in leukoencephalopathy, cerebral calcifications and cysts.

Keywords: Biopsy; Genetic analysis; Leukoencephalopathy with cerebral calcifications and cysts; Neuroimaging.