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

Laura Papetti, Luigi Tarani, Francesco Nicita, Martino Ruggieri, Chiara Mattiucci, Francesca Mancini, Fabiana Ursitti, Alberto Spalice

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)143-147
Number of pages5
JournalBrain and Development
Volume34
Issue number2
DOIs
Publication statusPublished - Feb 2012

Fingerprint

Megalencephaly
Vascular Malformations
Names
Blood Vessels
Skin
Brain
Megalencephaly cutis marmorata telangiectatica congenita
Capillary Malformations, Congenital, 1

Keywords

  • Capillary malformation
  • Cerebellar tonsillar herniation
  • Macrocephaly
  • Polymicrogyria

ASJC Scopus subject areas

  • Clinical Neurology
  • Developmental Neuroscience
  • Pediatrics, Perinatology, and Child Health

Cite this

Macrocephaly-capillary malformation syndrome : Description of a case and review of clinical diagnostic criteria. / Papetti, Laura; Tarani, Luigi; Nicita, Francesco; Ruggieri, Martino; Mattiucci, Chiara; Mancini, Francesca; Ursitti, Fabiana; Spalice, Alberto.

In: Brain and Development, Vol. 34, No. 2, 02.2012, p. 143-147.

Research output: Contribution to journalArticle

Papetti, L, Tarani, L, Nicita, F, Ruggieri, M, Mattiucci, C, Mancini, F, Ursitti, F & Spalice, A 2012, 'Macrocephaly-capillary malformation syndrome: Description of a case and review of clinical diagnostic criteria', Brain and Development, vol. 34, no. 2, pp. 143-147. https://doi.org/10.1016/j.braindev.2011.02.001
Papetti, Laura ; Tarani, Luigi ; Nicita, Francesco ; Ruggieri, Martino ; Mattiucci, Chiara ; Mancini, Francesca ; Ursitti, Fabiana ; Spalice, Alberto. / Macrocephaly-capillary malformation syndrome : Description of a case and review of clinical diagnostic criteria. In: Brain and Development. 2012 ; Vol. 34, No. 2. pp. 143-147.
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