Anatomical and functional abnormalities on MRI in kabuki syndrome

Publication date: Available online 19 November 2018Source: NeuroImage: ClinicalAuthor(s): Jennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaître, Natacha Lehman, Ana Saitovitch, Vincent Gatinois, Guilaine Boursier, Elodie Sanchez, Elza Rechtman, Ludovic Fillon, Stanislas Lyonnet, Kim-Hanh Le Quang Sang, Genevieve Baujat, Marlene Rio, Odile Boute, Laurence Faivre, Elise Schaefer, Damien Sanlaville, Monica Zilbovicius, David GreventAbstractKabuki syndrome (KS) is a rare congenital disorder (1/32000 births) characterized by distinctive facial features, intellectual disability, short stature, and dermatoglyphic and skeletal abnormalities. In the last decade, mutations in KMT2D and KDM6A were identified as a major cause of kabuki syndrome. Although genetic abnormalities have been highlighted in KS, brain abnormalities have been little explored. Here, we have investigated brain abnormalities in 6 patients with KS (4 males; Mage = 10.96 years, SD = 2.97 years) with KMT2D mutation in comparison with 26 healthy controls (17 males; Mage = 10.31 years, SD = 2.96 years). We have used MRI to explore anatomical and functional brain abnormalities in patients with KS. Anatomical abnormalities in grey matter volume were assessed by cortical and subcortical analyses. Functional abnormalities were assessed by comparing rest cerebral blood flow measured with arterial spin labeling-MRI. When compared to healthy controls, KS patients had anatomical alterations characte...
Source: NeuroImage: Clinical - Category: Radiology Source Type: research