title: Christianson syndrome: spectrum of neuroimaging findings.
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.
authors.affiliation: Section 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.
authors.forename: Thangamadhan
authors.initials: T
authors.lastname: Bosemani
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy.
authors.forename: Ginevra
authors.initials: G
authors.lastname: Zanni
authors.affiliation: Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States.
authors.forename: Adam L
authors.initials: AL
authors.lastname: Hartman
authors.affiliation: Schneider's Children Medical Center of Israel and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Rony
authors.initials: R
authors.lastname: Cohen
authors.affiliation: Section 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.
authors.forename: Thierry A G M
authors.initials: TA
authors.lastname: Huisman
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.affiliation: Section 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.
authors.forename: Andrea
authors.initials: A
authors.lastname: Poretti
mesh_terms: D017204:Angelman Syndrome / Q000175:diagnosis; D001259:Ataxia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D001284:Atrophy / Q000150:complications / Q000473:pathology; D002531:Cerebellum / Q000473:pathology*; D002648:Child; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D009154:Mutation; D015835:Ocular Motility Disorders / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D017923:Sodium-Hydrogen Exchangers / Q000235:genetics
chemical_list: C445316:SLC9A6 protein, human; D017923:Sodium-Hydrogen Exchangers