[Optic neuropathy in Strumpell-Lorrain disease: presentation of a clinical case and literature review].
This report describes a 36-year-old female with bilateral optic atrophy. Physical examination was normal except for subclinical signs of lower limbs spasticity. Her father was affected of Strumpell-Lorrain disease. The clinical characteristics of Hereditary Spastic Paraplegia or Strumpell-Lorrain disease are: progressive spasticity of the lower limbs and pathological reflexes. Pathologically, this disease is characterized by a degeneration or demyelinization of the cortico-spinal system and, to a lesser extent, of the posterior cord and the spino-cerebellar system. Optic neuropathy and dyschromatopsy have already been reported in a small group of patients. Visual acuity ranged from 20/20 to 20/200. Visual field alterations consisted of superior bitemporal amputation. Fundus examination showed optic atrophy. The incidence of optic neuropathy in Strumpell-Lorrain disease is quite high but its presence is often overlooked. Most patients are asymptomatic, but signs of optic nerve dysfunction are evident at clinical examination. According to some authors, there is an inverse relationship between the impairment of walking and the visual dysfunction. This was also noted in our case.
Makhoul
J
J
Service d'Ophtalmologie, Unité de Neuro-Ophtalmologie, Hôpital Erasme, ULB.
Cordonnier
M
M
Van Nechel
C
C
D000328:Adult; D003711:Demyelinating Diseases / Q000235:genetics; D005260:Female; D006801:Humans; D009896:Optic Atrophy / Q000235:genetics*; D010264:Paraplegia / Q000175:diagnosis* / Q000235:genetics*; D011712:Pyramidal Tracts; D013577:Syndrome