[Kjellin syndrome].

Abstract

A previously healthy 30-year-old woman who had cognitive impairment since childhood suddenly developed progressive spastic paraparesis. Visual impairment and characteristic retinal macular spots supported the diagnosis of Kjellin syndrome. This disease, probably transmitted by autosomal recessive inheritance, is seldom observed in clinical practice. We describe the characteristics of Kjellin syndrome and the differential diagnosis, including other macular changes associated with spastic paraparesis.

• Authors: D Ferriby, T Stojkovic, J De Seze, B Puech, E Josien, J C Hache, P Vermersch
• Journal: Revue neurologique (Rev Neurol (Paris)) Vol. 157 Issue 1 Pg. 80-3 (Jan 2001) ISSN: 0035-3787 [Print] France
• Vernacular Title: Syndrome de Kjellin.
• PMID: 11240552 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Adult
• Female
• Humans
• Intellectual Disability
• Macular Degeneration
• Paraparesis, Spastic
• Syndrome
• Vision Disorders