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Case report


Chudley-McCullough Syndrome.

Meltem ÖzdemirAlper Dilli
Department of Radiology, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey
Date of Submission: 28-May-2018, Date of Acceptance: 10-Sep-2018, Date of Web Publication: 15-Nov-2018.
Corresponding Author:
Corresponding Author

Meltem Özdemir

Department of Radiology, University of Health Sciences, Dışkapı Training and Research Hospital, Ziraat Mah, Şehit Ömer Halisdemir Cad. No: 20, Altıdağ/Ankara, Turkey.
E-mail: meltemkaan99@gmail.com

Corresponding Author:
Corresponding Author

Meltem Özdemir

Department of Radiology, University of Health Sciences, Dışkapı Training and Research Hospital, Ziraat Mah, Şehit Ömer Halisdemir Cad. No: 20, Altıdağ/Ankara, Turkey.
E-mail: meltemkaan99@gmail.com

DOI: 10.4103/jcis.JCIS_39_18 Facebook Twitter Google Linkedin

ABSTRACT


Chudley-McCullough syndrome (CMS), an autosomal recessive condition first reported by Chudley et al., in 1997, comprises profound sensorineural hearing loss and specific brain abnormalities. The hearing loss may be congenital or early onset. Brain abnormalities are striking, but despite these brain malformations, individuals with CMS do not present significant neurodevelopmental abnormalities. Recently, the cause of CMS has been shown to be the inactivating mutations in G protein signaling modulator 2. We aimed to present a 36-year-old male who has the characteristic clinical and neuroimaging findings of CMS.
Keywords: Cerebellar dysplasia, Chudley-McCullough syndrome, corpus callosum hypogenesis, sensorineural hearing loss

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