Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome

Definition

A rare genetic neurologic syndrome characterized by the triad of ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia that presents with progressive dysarthria, unsteadiness of gait. Ichthyosis usually manifests with marked hyperkeratosis, affecting the hands, arms and legs, primarily on the extensor surfaces of the limbs. The severity of ataxia and disability of limb movements are variable. Upward vertical gaze palsy, sluggish reflexes and impaired memory may also be present. There have been no further descriptions in the literature since 1979.