Late-onset leukoencephalopathy with cerebral calcifications and cysts: case report and review of the literature

Abstract

Background: Leukoencephalopathy with calcifications and cysts (LCC or Labrune disease) is a relatively recently defined and exceptionally rare disease in which parenchymal cysts and calcifications within a widespread leukoencephalopathy can cause a broad spectrum of neurological symptoms. The cause of the disease is unknown. Manifestation is usually in childhood or adolescence, while onset in adulthood has been described in 19 cases.

Case presentation: Here we report a case of an adult-onset LCC of a Caucasian woman who became symptomatic at age 70 as confirmed by typical neuroimaging and neuropathological findings. After resection of left mesioparietal space-occupying cystic brain tissue the patient has so far remained clinically stable during one year of follow-up with a continuous treatment with glucocorticosteroids.

Conclusion: To our knowledge this report of a patient who became symptomatic at age 70 represents the oldest age-at-onset case of LCC described so far.

Fig. 1

Fluid-attenuated-inversion recovery (FLAIR) sequence of the initial MRI

Fig. 2

Susceptibility-weighed (SW) sequence of the initial MRI

Fig. 3

T2-weighted MRI 6 weeks after the initial MRI and after tapering off glucocorticoids. Note the more pronounced midline shift to the right as compared to the prior MRI

Fig. 4

Typical histopathological findings. Arrows indicate the respective specific features. a Blood vessels with hyaline degeneration. b Signs of micro-bleedings. c and d Perivascular loss of myelin (LFB/PAS staining) (scale bars a, b, d = 100 μm, c = 200 μm)

Fig. 5

T2-weighted MRI one year after initial presentation and 10 months after left mesioparietal resection. Increase in size of the left posterior cyst as well as periventricular intracystic bleeding. Stable course of the leukoencephalopathy