Year: 2024
Type: article
Study design: Case Report
Abstract: A 52-year-old woman presented with progressive encephalopathy, quadriparesis, and seizures over 6 months.Family history was unrevealing.Head CT revealed white matter hypodensities, basal ganglia calcifications, and a posterior fossa cystic lesion (Figure 1).Brain MRI showed diffuse T2/FLAIR white matter hyperintensities sparing U-fibers, basal ganglia calcifications, and a large pontine cystic lesion (Figure 2).CSF studies were normal.Trio-based whole-exome sequencing revealed previously reported pathogenic variants in SNORD118, 1 consistent with a diagnosis of leukoencephalopathy with calcifications and cysts (LCC). 2 LCC is an extremely rare genetic leukoencephalopathy caused by autosomal recessive pathogenic variants in the SNORD118 gene. 2 Typical radiographic findings are leukoencephalopathy sparing U-fibers, deep grey matter calcifications, and cystic lesions.1,2 Pathologic findings include a microangiopathy with angiomatous-like blood vessel gliosis and Rosenthal fiber deposition. 2 Case reports document response to bevacizumab, although there is an increased risk of hemorrhage within cysts and some patients have spontaneous arrest of disease progression.From the Department of Neurology (F.J.J., H.
Source: Neurology
Institutions: Children's National, University of Pennsylvania
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
Award: G3798746596
OpenAlex ID: W4402975632