Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature

Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature

“…LCC, classified as a leuko-vasculopathy according to the van der Knaap classification [ 29 ], is a rare leukodystrophy characterized by a neuroradiological triad: intracranial calcifications, intraparenchymal cysts, and leukodystrophy. The extent of leukodystrophy and calcification does not appear to correlate with disease severity or time of symptom onset [ 15 ]. The localization and size of the cysts, which can enlarge as the disease progresses, do correlate with certain clinical signs and symptoms, sometimes necessitating invasive therapy such as cyst drainage, even urgently.…”

“…Progressive neurological signs manifest as focal motor, sensory, and visual deficits, movement disorders of extrapyramidal and cerebellar origin, and aphasia, all linked to cyst location. Some patients develop signs of increased intracranial pressure due to cyst enlargement [ 15 ]. LCC syndrome typically presents as an isolated central nervous system disorder, with only one reported exception involving systemic involvement [ 17 ].…”

“…Apart from the typical neuroradiological triad consisting of white matter hyperintensities on T2-weighted imaging, cerebral calcifications, and parenchymal cysts, clinically, LCC is often characterized by epilepsy, accompanied by global developmental delay and sometimes followed by slow regression. Additional neurological symptoms vary, partly depending on the location and volume increase of the cysts, with some cases requiring cyst drainage due to intracranial hypertension and hydrocephalus [ 15 ]. Disease onset can occur in pediatric and adult populations, with no clear genotype–phenotype correlation [ 1 ].…”

“…Given the microvascular alterations observed in brain biopsies, the anti-angiogenic agent bevacizumab has been administered to some LCC patients in recent years; however, its effectiveness remains uncertain since the natural history of the disease is unknown due to either the description of isolated cases or the lack of standardized serial evaluations from a clinical-radiological standpoint for prominent cohorts of patients [ 11 , 15 , 16 ].…”

Tumor Neurobiology in the Pathogenesis and Therapy of Head and Neck Cancer

“…At the structural and functional level, electron microscopy (EM) is widely used to reveal the synaptic structures between neurons and tumor cells [131]. Dynamic contrast-enhanced magnetic resonance (MR) and MR spectroscopy are utilized for the neuroimaging of in vivo models or clinical diagnosis [132,133]. In CNS tumors, multiphoton laser-scanning microscopy (MPLSM), which provides high-resolution in vivo imaging, has been used to monitor the coordinated activity of tumor cells in neuronal signaling when combined with calcium imaging in a spatial and functional manner [131,134,135].…”