title: MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.
abstract: MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature: We describe the clinical history and magnetic resonance imaging (MRI) findings in 10 children with the Macrocephaly-Cutis Marmorata Telangiectatica Congenita syndrome (M-CMTC--MIM 602501). This syndrome has recently been delineated within the general group of patients with Cutis Marmorata Telangiectatica (CMTC) as a distinct and easily recognisable entity. In contrast to most children with CMTC, patients with M-CMTC syndrome have a high risk of neurological abnormalities, such as hydrocephalus, megalencephaly, developmental delay and mental retardation. An MRI scan showed structural cerebral abnormalities in all of our patients, including megalencephaly, asymmetry of the cerebral hemispheres and abnormally increased signal of white matter. Seven patients also had Chiari type I malformation. Reviewing all reported cases, we propose appropriate surveillance for known complications.
authors.affiliation: Department of Paediatrics and Genetics Unit, S. Maria Nuova Hospital, Reggio Emilia, Italy. garavelli.livia@asmn.re.it
authors.forename: L
authors.initials: L
authors.lastname: Garavelli
authors.forename: K
authors.initials: K
authors.lastname: Leask
authors.forename: C
authors.initials: C
authors.lastname: Zanacca
authors.forename: S
authors.initials: S
authors.lastname: Pedori
authors.forename: G
authors.initials: G
authors.lastname: Albertini
authors.forename: E
authors.initials: E
authors.lastname: Della Giustina
authors.forename: G F
authors.initials: GF
authors.lastname: Croci
authors.forename: C
authors.initials: C
authors.lastname: Magnani
authors.forename: G
authors.initials: G
authors.lastname: Banchini
authors.forename: J
authors.initials: J
authors.lastname: Clayton-Smith
authors.forename: M
authors.initials: M
authors.lastname: Bocian
authors.forename: H
authors.initials: H
authors.lastname: Firth
authors.forename: J A
authors.initials: JA
authors.lastname: Gold
authors.forename: J
authors.initials: J
authors.lastname: Hurst
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D007839:Functional Laterality / Q000235:genetics; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D010641:Phenotype; D012868:Skin Abnormalities / Q000175:diagnosis* / Q000235:genetics; D017445:Skin Diseases, Vascular / Q000175:diagnosis* / Q000235:genetics; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D013684:Telangiectasis / Q000175:diagnosis* / Q000235:genetics