A Tunisian Case of Oculo-dento-digital Syndrome Revealed by Spastic Paraplegia

Abstract

Oculo-dento-digital syndrome (ODD) is a rare congenital disorder that associates eye and facial abnormalities, defects in teeth enamel and type III syndactyly. It is a genetic disorder inherited in an autosomal dominant fashion and displays high penetrance but variable clinical expression. A few patients with ODD syndrome also manifest spastic paraparesis. The authors report a sporadic case with ODD syndrome, who was referred for evaluation of spastic paraplegia associated with bladder dysfunction. The report shows that ODD syndrome can be recognized in late adulthood and revealed by spastic paraplegia. Cerebral MRI must be carried out to complete the phenotyping of this syndrome.

KEYWORDS:

• Oculo-dento-digital syndrome
• spastic paraplegia