title: Complicated hereditary spastic paraplegia with peripheral neuropathy, optic atrophy and mental retardation.
abstract: An 8-year old girl with a not previously described type of complicated hereditary spastic paraplegia (HSP) is presented. Spasticity in her lower limbs had already been recognized during infancy and worsened progressively. Severe delay in mental development was observed. Peripheral neuropathy and optic atrophy developed at 5 years of age. On brain magnetic resonance imaging, an abnormally thin corpus callosum was observed. Involvement of the fasciculus gracilis was suggested by somatosensory evoked potentials. To our knowledge, 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.
authors.affiliation: Department of Pediatric Neurology, Shimada Center for Rehabilitation and Neurodevelopmental Intervention, Tokyo, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Miyama
authors.forename: K
authors.initials: K
authors.lastname: Arimoto
authors.forename: S
authors.initials: S
authors.lastname: Kimiya
authors.forename: H
authors.initials: H
authors.lastname: Tomi
mesh_terms: D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000473:pathology; D002648:Child; D005073:Evoked Potentials, Somatosensory / Q000502:physiology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008279:Magnetic Resonance Imaging; D009896:Optic Atrophy / Q000150:complications*; D010264:Paraplegia / Q000150:complications* / Q000175:diagnosis; D010523:Peripheral Nervous System Diseases / Q000150:complications*; D012720:Severity of Illness Index