Smith‐Lemli‐Opitz Syndrome: Neuropathological and Ophthalmological Observations

Abstract

The case of a 3 yr old boy with the Smith-Lemli-Opitz syndrome was reported. Besides the constellation of skeletal and genital anomalies classically described in this syndrome, this patient has spontaneous opsoclonus-like eye movements, strabismus, lack of visual following responses and of opticokinetic reflexes. At autopsy the cerebellar vermis was absent. There were retinal hemangiomas. Microscopical examinations showed loss of Purkinje cells and extensive neuronal degeneration within dentate nuclei, associated with patchy demyelination of cerebellar peduncles and central white matter. These findings may help explain the pathophysiology of opsoclonus and some of the neuro-ophthalmological findings.