Christianson Syndrome: Spectrum of Neuroimaging Findings

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

doi:10.1055/s-0033-1363091

Neuropediatrics, Table of Contents

Neuropediatrics 2014; 45(04): 247-251
DOI: 10.1055/s-0033-1363091

Short Communication

Georg Thieme Verlag KG Stuttgart · New York

Christianson Syndrome: Spectrum of Neuroimaging Findings

Thangamadhan Bosemani

¹Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States

,

Ginevra Zanni

²Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy

,

Adam L. Hartman

³Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States

,

Rony Cohen

⁴Schneider's Children Medical Center of Israel and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

,

Thierry A. G. M. Huisman

¹Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States

,

Enrico Bertini

²Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy

,

Andrea Poretti

¹Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States

› Author Affiliations

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.

Keywords

Christianson syndrome - neuroimaging - cerebellar atrophy - cerebellar cortex hyperintensity

Full Text

References

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