[Kjellin syndrome].
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.
Clinique Neurologique, service de Neurologie D, CHRU Lille.
D
D
Ferriby
T
T
Stojkovic
J
J
De Seze
B
B
Puech
E
E
Josien
J C
JC
Hache
P
P
Vermersch
D000328:Adult; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D008268:Macular Degeneration; D020336:Paraparesis, Spastic; D013577:Syndrome; D014786:Vision Disorders