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.
Georg Thieme Verlag KG Stuttgart · New York.
MeSH terms
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Angelman Syndrome / diagnosis
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Ataxia / complications
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Ataxia / diagnosis*
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Ataxia / genetics
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Ataxia / pathology*
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Atrophy / complications
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Atrophy / pathology
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Cerebellum / pathology*
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Child
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Diagnosis, Differential
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Epilepsy / complications
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Epilepsy / diagnosis*
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Epilepsy / genetics
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Epilepsy / pathology*
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Genetic Diseases, X-Linked / complications
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Genetic Diseases, X-Linked / diagnosis*
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Genetic Diseases, X-Linked / genetics
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Genetic Diseases, X-Linked / pathology*
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Humans
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Intellectual Disability / complications
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Intellectual Disability / diagnosis*
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Intellectual Disability / genetics
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Intellectual Disability / pathology*
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Magnetic Resonance Imaging
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Male
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Microcephaly / complications
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Microcephaly / diagnosis*
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Microcephaly / genetics
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Microcephaly / pathology*
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Mutation
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Ocular Motility Disorders / complications
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Ocular Motility Disorders / diagnosis*
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Ocular Motility Disorders / genetics
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Ocular Motility Disorders / pathology*
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Sodium-Hydrogen Exchangers / genetics
Substances
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SLC9A6 protein, human
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Sodium-Hydrogen Exchangers
Supplementary concepts
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Mental Retardation, X-Linked, Syndromic, Christianson Type