[A case of spinocerebellar ataxia type 2 presenting with lid retraction with prominent eyes and pyramidal signs].
We herein report a case of a 45-year-old man who was diagnosed with spinocerebellar ataxia type 2 (SCA 2) by genomic testing and whose grandmother, father, and uncle were also affected by the same disease. The patient had noted difficulty in walking and dysarthria since the age of 43. Neurological examination revealed lid retraction with prominent eyes, cerebellar ataxia and pyramidal signs including spasticity, ankle clonus, and hyperreflexia with pathological reflexes. MRI showed atrophy of the cerebellum, brain stem, and spinal cord. This case report suggests that the lid retraction with prominent eyes and pyramidal signs are sometimes major features in SCA2.
Kohira
Ichiro
I
Department of Neurology, Kochi Municipal Central Hospital, 2-7-33 Sakurai-cho, Kochi 780-0821, Japan.
Ujike
Hiroshi
H
Ninomiya
Yotaro
Y
D005143:Eyelids / Q000503:physiopathology; D019066:Facies; D006801:Humans; D008297:Male; D008875:Middle Aged; D020754:Spinocerebellar Ataxias / Q000503:physiopathology*