Oculocerebral malformations. A reappraisal of Walker's 'lissencephaly'.
We describe an infant with multiple ocular and cerebral malformations. The eye lesions included microphthalmia, detachment and dysplasia of the retina, hypoplasia of the optic nerve, persistence of the primary vitreous, cataracts, obliteration of the anterior chamber, and vascularization of the cornea. In the brain, the salient features were microencephaly, agyria of an unusual type, cerebellar hypoplasia and dysplasia, persistent corpus pontobulbare, obliteration of the subarachnoid space, and a midline arachnoid cyst in the posterior fossa. We suggest that these lesions were the end result of a fetal infection that operated during a protracted period starting not later than the fourth month of intrauterine life.
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D005123:Eye / Q000473:pathology; D005124:Eye Abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008850:Microphthalmos / Q000473:pathology; D009900:Optic Nerve / Q000473:pathology; D012160:Retina / Q000473:pathology