title: Macrocephaly-capillary malformation syndrome: description of a case and review of clinical diagnostic criteria.
abstract: Macrocephaly-capillary malformation (M-CM) is characterized by prenatal overgrowth, variable somatic and cerebral asymmetry, primary megalencephaly, characteristic facial features, an abnormal neurocognitive profile and cutaneous vascular malformations. It was previously known under the name macrocephaly-cutis marmorata telangiectatica congenital (M-CMTC). However a recent review of the previously reported cases has suggested that the vascular anomalies are not true CMTC but rather capillary malformations. The diagnosis is primary clinical and different criteria have been proposed for this purpose. However, M-CM is frequently associated with structural brain abnormalities that should be properly investigated and monitored because of their possible progressive development. We report the neuroradiological and morphological features observed in a girl with M-CM and we compared them with proposed diagnostic criteria found in the literature.
authors.affiliation: Department of Pediatrics, Child Neurology Division, Sapienza University of Rome, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Papetti
authors.forename: Luigi
authors.initials: L
authors.lastname: Tarani
authors.forename: Francesco
authors.initials: F
authors.lastname: Nicita
authors.forename: Martino
authors.initials: M
authors.lastname: Ruggieri
authors.forename: Chiara
authors.initials: C
authors.lastname: Mattiucci
authors.forename: Francesca
authors.initials: F
authors.lastname: Mancini
authors.forename: Fabiana
authors.initials: F
authors.lastname: Ursitti
authors.forename: Alberto
authors.initials: A
authors.lastname: Spalice
mesh_terms: D020785:Central Nervous System Vascular Malformations / Q000150:complications* / Q000175:diagnosis*; D002531:Cerebellum / Q000473:pathology; D002648:Child; D004562:Electrocardiography / Q000379:methods; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D058627:Megalencephaly / Q000150:complications* / Q000175:diagnosis*