Eight-year progression of leukoencephalopathy with calcifications and cysts in a patient with Labrune syndrome who underwent multiple surgeries: A case report

Background Leukoencephalopathy with intracranial calcifications and cysts (LCC), also known as Labrune syndrome, is a rare genetic microangiopathy caused by biallelic mutations in SNORD118 . The mechanisms by which loss-of-function mutations in SNORD118 develop into leukoencephalopathy, calcifications, and intracranial cysts remains unknown. Case Presentation: We report the case of a 54-year-old woman with LCC who was admitted for an acute onset of epilepsy for 5 days. She had a history of intermittent resection of multiple intracranial space-occupying lesions for 8 years and epilepsy for 5 years. She underwent four neurosurgical interventions over an 8-year period. We obtained the pathological sections from these four surgeries and retrospectively analyzed the pathological progression of LCC. Histopathological analysis revealed that angiomatoid hyperplasia was an early histomorphological manifestation of LLC, suggesting that it induced changes in the surrounding brain tissue, aggregation of phagocytes, and subsequent cystic lesions. Conclusions The basic histopathological abnormalities of LCC were angiomatoid hyperplasia and obliterative microangiopathy. The 8-year follow-up revealed gradual cyst enlargement (likely from edematous microcyst fusion) and microangiopathic progression (from angiomatous proliferation to vascular sclerosis, obliteration, ischemia, and cyst formation), supporting the pathogenesis of microangiopathy-driven ischemia and cyst formation.