CT and MRI findings in infantile vanishing white matter.

Autor:	Robbins K; University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA., Arraj P; University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA., Dengle Sanchez L; Department of Pediatrics, Division of Pediatric Neurology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA., Godiyal N; University of Texas at Dallas, 800 W Campbell Rd, Richardson, TX 75080, USA., Veltkamp DL; Department of Radiology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA., Pfeifer CM; Department of Radiology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA.
Jazyk:	angličtina
Zdroj:	Radiology case reports [Radiol Case Rep] 2020 Nov 06; Vol. 16 (1), pp. 116-118. Date of Electronic Publication: 2020 Nov 06 (Print Publication: 2021).
DOI:	10.1016/j.radcr.2020.10.035
Abstrakt:	Infantile vanishing white matter disease is an uncommon cause of developmental delay and seizures in children. Presented here is a case of vanishing white matter disease diagnosed at 6 months of age. Imaging findings demonstrated widespread white matter abnormalities throughout the supratentorial and infratentorial brain. The diagnosis of infantile vanishing white matter disease was confirmed via molecular analysis which revealed a rare mutation in the gene responsible for this disorder. (© 2020 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)
Databáze:	MEDLINE
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