CT and MRI findings in infantile vanishing white matter

Kyle Robbins, Patrick Arraj, Lauren Dengle Sanchez, Nikhil Godiyal, Daniel L. Veltkamp, Cory M. Pfeifer

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)116-118
Number of pages3
JournalRadiology Case Reports
Volume16
Issue number1
DOIs
StatePublished - Jan 2021

Keywords

  • Cree leukodystrophy
  • Infantile vanishing white matter

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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