Retinal dysplasia, megalencephaly, and neurocutaneous vascular telangiectasia - Relationship to phakomatosis/hamartoha syndromes

Purpose. To describe unique abnormalities of the retina, brain and skin observed in a dysmorphic infant who expired 24 hours after birth; to compare the findings with previously described phakomatosis/hamartoma syndromes. Methods. This male infant was the product of a normal pregnancy. The mother had a pignented hairy nevus and a flat hemangioma of the skin but was otherwise had a normal Giemsa-banded karyotype. The face and skull were dysmorphic; the somatic skeleton was normal by whole body radiography. Formalin fixed eye and skin tissues, and formalinacetic acid fixed brain tissues, were processed into paraffin. Histological sections were cut at 6 micron thickness and studied with hematoxylin-eosin. Selected sections were stained with periodic acid-Schiff, Masson trichrome, phosphotungstic acid-hematoxylin, Bodian silver, or with inmunohistochemistry for neuron specific enolase or glial fibrillary acidic protein. Results. Eyes - retinal dysplasia with rosettes, retinal glial hamartomas, optic disc swelling. Brain - megalencephaly, polymicrogyria, thickened, corpts callosum with cavum septum pellucidum, neuronal heterotopia, vascular telangiectasis. Skin - vascular telangiectasia. Conclusions. Retinal dysplasia, megalencephaly/neuronal cytoarchitectural abnormalities, and neurocutaneous vascular telangiectasia have not been previously associated. The retina/brain findings suggest defective neuronal type of phakomatosis/hamartoma syndrome.