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A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy.
Macintosh, Julia; Thiffault, Isabelle; Pastinen, Tomi; Sztriha, László; Bernard, Geneviève.
Afiliación
  • Macintosh J; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
  • Thiffault I; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC, Canada.
  • Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, USA.
  • Sztriha L; University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.
  • Bernard G; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
Child Neurol Open ; 10: 2329048X231176673, 2023.
Article en En | MEDLINE | ID: mdl-37284702
De novo pathogenic variants in EIF2AK2 have recently been reported as a novel genetic cause of leukoencephalopathy. Here, we describe a male individual who presented in the first year of life with clinical features resembling Pelizaeus-Merzbacher disease (PMD), including nystagmus, hypotonia, and global developmental delay, and which later progressed to include ataxia and spasticity. Brain MRI at the age of two revealed diffuse hypomyelination. This report adds to the limited number of individuals published and further reinforces de novo variants in EIF2AK2 as a molecular cause of a leukodystrophy that clinically and radiologically resembles PMD.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies Idioma: En Revista: Child Neurol Open Año: 2023 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies Idioma: En Revista: Child Neurol Open Año: 2023 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos