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

Abstract

BackgroundLeukoencephalopathy 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 presentationHere 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.ConclusionTo 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.

Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo

“…16,17,21 MRI of the patient was consistent with LCC and not LTBL. The patient's pathology was also consistent with LCC including angiomatous-like rearrangements of microvessels with secondary degeneration of cellular constituents such as gliosis and aggregates of intermediate filaments called Rosenthal fibers, 16,22 none of which are known to be found in LTBL.…”

Systemic involvement in adult‐onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the SNORD118 gene

“…Disease onset generally ranges from childhood to adolescence, but several cases have been described in adults [6,7].…”

“…Conversely, in adulthood the clinical condition might either be complicated by intracerebral hemorrhage or remain stable over time. In particular, in adult patients, cysts are the most dynamic radiological element and seem to be strongly related to the clinical manifestations [7,8].…”

“…To confirm this hypothesis, histopathology reveals angiomatous changes with numerous small ectatic tortuous vessels with perivascular foci of calcifications, Rosenthal fibers, hyaline deposits, diffuse gliosis, microcysts and hemosiderin deposits. Furthermore, angiographic brain sequences usually do not show abnormalities of the large vessels [1,7]. Initially, Labrune syndrome was considered a variant of Coats plus syndrome or cerebroretinal microangiopathy with calcifications and cysts, a disease with similar neuroradiological features but in addition retinal vascular alterations.…”

“…The main therapeutic approaches have so far been based on the chronic administration of corticosteroids and surgical procedures with often only partial and temporary benefit [7]. Specifically, surgery aims at reducing the mass effect by aspiration, fenestration or removal of cysts.…”