Neuro-otological findings in a case of Marinesco-Sjögren syndrome with nystagmus.

Marinesco-Sjögren syndrome is a very rare disease that develops in childhood with main symptoms of cataract, ataxia, mental deficiency and microsomia, and is regarded as a type of spinocerebellar degeneration. The author performed the neuro-otological tests on a case of suspected Marinesco-Sjögren syndrome. The patient exhibited bilateral congenital cataract, mild cerebellar symptoms, bilateral gaze nystagmus with rebound nystagmus, mental retardation, deformity and muscular atrophy of the limbs. Though cerebellar symptoms of the limb were mild, the findings of bilateral gaze nystagmus that appeared most notably immediately after lateral gaze and diminished gradually thereafter with rebound nystagmus suggested cerebellar disturbances. Marked atrophy of the cerebellar hemisphere in CT scans supported the neurootological findings. The author agrees to the opinion of Skre and Löcken who included Marinesco-Sjögren syndrome in the cerebellar form of spinocerebellar degeneration.