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 journalArticlepeer-review


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
Issue number2
Publication statusPublished - Feb 2012


  • Capillary malformation
  • Cerebellar tonsillar herniation
  • Macrocephaly
  • Polymicrogyria

ASJC Scopus subject areas

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


Dive into the research topics of 'Macrocephaly-capillary malformation syndrome: Description of a case and review of clinical diagnostic criteria'. Together they form a unique fingerprint.

Cite this