Infantile cerebellar-retinal degeneration

Definition

A rare neurometabolic disease characterized by infantile onset truncal ataxia/hypotonia, athetosis, generalized seizures and ophthalmologic abnormalities notably optic atrophy and retinal degeneration (strabismus, nystagmus, abnormal eye movements, and abnormal pursuit can also be present). Additional clinical features may include cerebral changes (thinning of the corpus callosum, dysmyelination, and frontal and temporal cortical atrophy), severely delayed global and psychomotor development with profound intellectual disability, failure to thrive, muscle atrophy and hyperreflexia. Most patients are not able to walk. Some patients may have milder and variable phenotype including mild developmental delay, ataxia and behavioral abnormalities. Short stature, moderate to severe sensorineural hearing loss, dysmorphic facial features (including prominent forehead, downslanting palpebral fissures, droopy eyelids, bifid uvula, submucous cleft palate) are also reported in some patients.