Christianson syndrome: Spectrum of neuroimaging findings

Thangamadhan Bosemani, Ginevra Zanni, Adam L. Hartman, Rony Cohen, Thierry A.G.M. Huisman, Enrico Bertini, Andrea Poretti

Research output: Contribution to journalReview articlepeer-review

14 Scopus citations


Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, ataxia, seizures, and behavioral abnormalities. The clinical phenotypes of CS and Angelman syndrome (AS) are similar. Differentiation between CS and AS is important in terms of genetic counseling. We report on two children with CS and confirmed mutations in SLC9A6 focusing on neuroimaging findings and review the available literature. Cerebellar atrophy (CA) occurs in approximately 60% of the patients with CS and develops after the age of 12 months. Hyperintense signal of the cerebellar cortex (CbC) is less common, and may be diffuse, patchy, or involve only the inferior part of the cerebellum and is best seen on coronal fluid attenuation inversion recovery images. CA and CbC-hyperintensity are not neuroimaging features of AS. In a child with the phenotype of AS, CA and/or CbC-hyperintensity are rather specific for CS and should prioritize sequencing of SLC9A6.

Original languageEnglish (US)
Pages (from-to)247-251
Number of pages5
Issue number4
StatePublished - Aug 2014
Externally publishedYes


  • Christianson syndrome
  • cerebellar atrophy
  • cerebellar cortex hyperintensity
  • neuroimaging

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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