Polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia: a new neurocutaneous syndrome

Pediatr Radiol. 1994;24(2):116-8. doi: 10.1007/BF02020167.

Abstract

This paper presents a unique case of true polycystic brain in which multiple cysts of curvilinear, round, oval, or layered configuration occurred. These apparently represented extremely dilated Virchow-Robin spaces: the perivascular spaces lined by ependymal/leptomeningeal cells. Irregular retinal pigment epithelium was also evident. In addition, the patient showed ectodermal dysplasia manifesting as thin hair, dystrophic nails, and dental abnormalities. A common ectodermal origin for the brain cysts and the ectodermal changes is proposed, as it is known that the central nervous system (including the ependymal/leptomeningeal cells and the retinal cells), the epidermis (including hair and nails), and the enamel of the teeth have the same origin-the embryonic ectoderm. This association appears to be a new, distinct neurocutaneous syndrome.

Publication types

  • Case Reports

MeSH terms

  • Brain Diseases / diagnosis
  • Brain Diseases / etiology*
  • Child
  • Cysts / diagnosis
  • Cysts / etiology*
  • Ectodermal Dysplasia / complications*
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Syndrome
  • Tomography, X-Ray Computed