Polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia: a new neurocutaneous syndrome.
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.
Sener
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Department of Radiology, Ege University Hospital, Izmir, Turkey.
D001927:Brain Diseases / Q000175:diagnosis / Q000209:etiology*; D002648:Child; D003560:Cysts / Q000175:diagnosis / Q000209:etiology*; D004476:Ectodermal Dysplasia / Q000150:complications*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D013577:Syndrome; D014057:Tomography, X-Ray Computed