5. Aicardi syndrome (see Aicardi et al). Chorioretinopathy, retinal lacunae, staphyloma, coloboma of optic nerve, microphthalmos, cognitive impairment, infantile spasms and other forms of epilepsy, agenesis of corpus callosum, and cortical heterotopias. The “batwing” deformity of the third and lateral ventricles and asynchronous burst-suppression and sleep spindles are diagnostic. The condition is found only in females and may have its basis in dysregulation of interferon.
6. Lissencephaly of the Walker-Warburg type. This anomaly has already been mentioned, as has its association with congenital muscular dystrophy. Inheritance is autosomal recessive. Ocular lesions are a regular feature but of variable type (retinal dysplasia, microphthalmia, coloboma, cataracts, corneal opacities). There may be hydrocephalus, and CT and MRI disclose the lack of cerebral sulci (lissencephaly). The abnormal eyes and orbits and absence of cerebellar vermis are diagnostic (see Table 37-3).
7. Congenital tapetoretinal degeneration (Leber amaurosis). Visual loss from birth, moderate to severe cognitive impairment, and microcephaly. Early onset of blindness and absent electrical potentials on the electroretinogram (ERG) distinguish it from later-onset Leber optic atrophy, which is a mitochondrial disorder (see Chaps. 12 and 36).
8. Septooptic dysplasia (de Morsier syndrome). Diminished visual acuity, small optic discs, absence of septum pellucidum, and precocious puberty. Varying degrees of pituitary insufficiency may be present, requiring endocrine replacement.
These are less important from the neurologic standpoint, and cognitive impairment is present only in some cases.
1. Mandibulofacial dysostosis (Treacher-Collins syndrome, Franceschetti-Zwahlen-Klein syndrome) 2. Oculoauriculovertebral dysplasia (Goldenhar syndrome) 3. Oculomandibulodyscephaly with hypotrichosis