Multiple Cavernous Malformations of Brain, Chest, and Skin: A Rare Case of an Infant and Literature Review

World Neurosurg. 2018 Dec:120:177-180. doi: 10.1016/j.wneu.2018.08.152. Epub 2018 Aug 29.

Abstract

Background: Cerebral cavernous malformations (CCMs) are vascular malformations that account for 5%-15% of all central nervous system vascular malformations. However, multiple CCMs, which can be sporadic or familial, are rare, with a prevalence of 0.1%-0.5%.

Case description: Here, we presented a rare case of sporadic multiple CCMs in an infant, which were accompanied with multiple cavernous malformations of the chest and skin.

Conclusions: CCMs were pathologically diagnosed through the total resection of the pineal regional lesion. We also observed a spontaneous regression of the remaining lesions during a follow-up period of 2 years. To our knowledge, this is the first case of CCMs in an infant in the English-language literature.

Keywords: Cerebral cavernous malformations; Infant; Multiple; Regression.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Brain Neoplasms / diagnosis*
  • Brain Neoplasms / genetics
  • Brain Neoplasms / surgery
  • Cerebrospinal Fluid Shunts
  • Female
  • Hemangioma, Cavernous, Central Nervous System / diagnosis*
  • Hemangioma, Cavernous, Central Nervous System / genetics
  • Hemangioma, Cavernous, Central Nervous System / surgery
  • Humans
  • Hydrocephalus / diagnosis
  • Hydrocephalus / genetics
  • Hydrocephalus / surgery
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Neoplasm Regression, Spontaneous
  • Neoplasms, Multiple Primary / diagnosis*
  • Neoplasms, Multiple Primary / genetics
  • Neoplasms, Multiple Primary / surgery
  • Pinealoma / diagnosis
  • Pinealoma / genetics
  • Pinealoma / surgery
  • Platelet Endothelial Cell Adhesion Molecule-1 / genetics
  • Pregnancy
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / genetics
  • Skin Neoplasms / surgery
  • Thoracic Neoplasms / diagnosis*
  • Thoracic Neoplasms / genetics
  • Tomography, X-Ray Computed
  • Ultrasonography, Prenatal

Substances

  • Platelet Endothelial Cell Adhesion Molecule-1