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 journalArticle

11 Citations (Scopus)

Abstract

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
Pages (from-to)247-251
Number of pages5
JournalNeuropediatrics
Volume45
Issue number4
DOIs
Publication statusPublished - 2014

Fingerprint

Neuroimaging
Angelman Syndrome
Cerebellar Cortex
Atrophy
Phenotype
Microcephaly
Mutation
Genetic Counseling
Ataxia
Intellectual Disability
Cerebellum
Mental Retardation, X-Linked, Syndromic, Christianson Type
Seizures

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology
  • Medicine(all)

Cite this

Bosemani, T., Zanni, G., Hartman, A. L., Cohen, R., Huisman, T. A. G. M., Bertini, E., & Poretti, A. (2014). Christianson syndrome: Spectrum of neuroimaging findings. Neuropediatrics, 45(4), 247-251. https://doi.org/10.1055/s-0033-1363091

Christianson syndrome : Spectrum of neuroimaging findings. / Bosemani, Thangamadhan; Zanni, Ginevra; Hartman, Adam L.; Cohen, Rony; Huisman, Thierry A G M; Bertini, Enrico; Poretti, Andrea.

In: Neuropediatrics, Vol. 45, No. 4, 2014, p. 247-251.

Research output: Contribution to journalArticle

Bosemani, T, Zanni, G, Hartman, AL, Cohen, R, Huisman, TAGM, Bertini, E & Poretti, A 2014, 'Christianson syndrome: Spectrum of neuroimaging findings', Neuropediatrics, vol. 45, no. 4, pp. 247-251. https://doi.org/10.1055/s-0033-1363091
Bosemani, Thangamadhan ; Zanni, Ginevra ; Hartman, Adam L. ; Cohen, Rony ; Huisman, Thierry A G M ; Bertini, Enrico ; Poretti, Andrea. / Christianson syndrome : Spectrum of neuroimaging findings. In: Neuropediatrics. 2014 ; Vol. 45, No. 4. pp. 247-251.
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