A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants

A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants

Leukoencephalopathy with calcifications and cysts is a rare autosomal recessive genetic disorder neuroradiologically characterized by intracranial calcification, cerebral white matter disease, and multiple cysts. Although SNORD118 genes have recently been identified as a cause of this disorder, its...

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Bibliographic Details
Main Authors: Kazuo Kodama, MD, Hiromi Aoyama, MD, PhD, Yoshimi Murakami, MD, Jun-ichi Takanashi, MD, PhD, Eriko Koshimizu, PhD, Satoko Miyatake, MD, PhD, Kazuhiro Iwama, MD, PhD, Takeshi Mizuguchi, MD, PhD, Naomichi Matsumoto, MD, PhD, Taku Omata, MD, PhD
Format: Article
Language:English
Published: Elsevier 2023-03-01
Series:Radiology Case Reports
Subjects:
Leukoencephalopathy with calcifications and cysts (LCC)
SNORD118
Cerebroretinal microangiopathy with calcification and cysts (CRMCC)
Online Access:http://www.sciencedirect.com/science/article/pii/S1930043322010172

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http://www.sciencedirect.com/science/article/pii/S1930043322010172

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