Complicated hereditary spastic paraplegia with peripheral neuropathy, optic atrophy and mental retardation

An 8-year old girl with a not previously described type of complicated here ditary spastic paraplegia (HSP) is presented. Spasticity in her lower limbs had already been recognized during infancy and worsened progressively. Sev ere delay in mental development was observed. Peripheral neuropathy and opt ic atrophy developed at 5 years of age. On brain magnetic resonance imaging , an abnormally thin corpus callosum was observed. Involvement of the fasci culus gracilis was suggested by somatosensory evoked potentials. To our kno wledge, there has been no reported case of complicated HSP with peripheral neuropathy, optic atrophy and mental retardation so far. We postulate that our patient is a sporadic case of not previously described complicated HSP.