Christianson Syndrome: Spectrum of Neuroimaging Findings

被引：21

作者：

Bosemani, Thangamadhan ^{[1
]}

Zanni, Ginevra ^{[2
]}

Hartman, Adam L. ^{[3
]}

Cohen, Rony ^{[4
,5
]}

Huisman, Thierry A. G. M. ^{[1
]}

Bertini, Enrico ^{[2
]}

Poretti, Andrea ^{[1
]}

机构：

[1] Johns Hopkins Univ, Sch Med, Russell H Morgan Dept Radiol & Radiol Sci, Sect Pediat Neuroradiol,Div Pediat Radiol, Baltimore, MD USA

[2] Bambino Gesu Childrens Res Hosp, Unit Neuromuscular & Neurodegenerat Disorders, Mol Med Lab, Rome, Italy

[3] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA

[4] Tel Aviv Univ, Schneiders Children Med Ctr Israel, IL-69978 Tel Aviv, Israel

[5] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel

来源：

NEUROPEDIATRICS | 2014年 / 45卷 / 04期

关键词：

Christianson syndrome; neuroimaging; cerebellar atrophy; cerebellar cortex hyperintensity; LINKED MENTAL-RETARDATION; ANGELMAN-LIKE SYNDROME; SLC9A6; GENE; CEREBELLAR ATROPHY; MUTATION; EPILEPSY; PATIENT;

D O I：

10.1055/s-0033-1363091

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：247 / 251

页数：5

共 16 条

[11] Novel SLC9A6 mutations in two families with Christianson syndrome [J].

Riess, A. ;

Rossier, E. ;

Krueger, R. ;

Dufke, A. ;

Beck-Woedl, S. ;

Horber, V. ;

Alber, M. ;

Glaeser, D. ;

Riess, O. ;

Tzschach, A. .

CLINICAL GENETICS, 2013, 83 (06) :596-597

[12] Natural History of Christianson Syndrome [J].

Schroer, Richard J. ;

Holden, Kenton R. ;

Tarpey, Patrick S. ;

Matheus, Maria Giselle ;

Griesemer, David A. ;

Friez, Michael J. ;

Fan, Jane Zheng ;

Simensen, Richard J. ;

Stromme, Petter ;

Stevenson, Roger E. ;

Stratton, Michael R. ;

Schwartz, Charles E. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (11) :2775-2783

[13] X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction [J].

Stromme, Petter ;

Dobrenis, Kostantin ;

Sillitoe, Roy V. ;

Gulinello, Maria ;

Ali, Nafeeza F. ;

Davidson, Cristin ;

Micsenyi, Matthew C. ;

Stephney, Gloria ;

Ellevog, Linda ;

Klungland, Arne ;

Walkley, Steven U. .

BRAIN, 2011, 134 :3369-3383

[14] A Loss-of-Function Mutation in the SLC9A6 Gene Causes X-Linked Mental Retardation Resembling Angelman Syndrome [J].

Takahashi, Yumi ;

Hosoki, Kana ;

Matsushita, Masafumi ;

Funatsuka, Makoto ;

Saito, Kayoko ;

Kanazawa, Hiroshi ;

Goto, Yu-ichi ;

Saitoh, Shinji .

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2011, 156B (07) :799-807

[15] Christianson Syndrome in a Patient With an Interstitial Xq26.3 Deletion [J].

Tzschach, Andreas ;

Ullmann, Reinhard ;

Ahmed, Alischo ;

Martin, Thomas ;

Weber, Georg ;

Decker-Schwering, Oliver ;

Pauly, Fernand ;

Shamdeen, Mohammed Ghiath ;

Reith, Wolfgang ;

Oehl-Jaschkowitz, Barbara .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (11) :2771-2774

[16] Clinical and genetic aspects of Angelman syndrome [J].

Williams, Charles A. ;

Driscoll, Daniel J. ;

Dagli, Aditi I. .

GENETICS IN MEDICINE, 2010, 12 (07) :385-395

← 1 2 →