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. (C) 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Macrocephaly-capillary malformation syndrome: Description of a case and review of clinical diagnostic criteria / Papetti, Laura; Tarani, Luigi; Nicita, Francesco; Martino, Ruggieri; Chiara, Mattiucci; Francesca, Mancini; Ursitti, Fabiana; Alberto, Spalice. - In: BRAIN & DEVELOPMENT. - ISSN 0387-7604. - 34:2(2012), pp. 143-147. [10.1016/j.braindev.2011.02.001]

Macrocephaly-capillary malformation syndrome: Description of a case and review of clinical diagnostic criteria

PAPETTI, LAURA;TARANI, Luigi;NICITA, Francesco;URSITTI, FABIANA;Alberto Spalice
2012

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. (C) 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
2012
capillary malformation; macrocephaly; polymicrogyria; cerebellar tonsillar herniation
01 Pubblicazione su rivista::01a Articolo in rivista
Macrocephaly-capillary malformation syndrome: Description of a case and review of clinical diagnostic criteria / Papetti, Laura; Tarani, Luigi; Nicita, Francesco; Martino, Ruggieri; Chiara, Mattiucci; Francesca, Mancini; Ursitti, Fabiana; Alberto, Spalice. - In: BRAIN & DEVELOPMENT. - ISSN 0387-7604. - 34:2(2012), pp. 143-147. [10.1016/j.braindev.2011.02.001]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/355796
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