Marinesco-sjgren syndrome (congenital spinocerebellar ataxia- congenital cataract-oligophrenia syndrome) 7

General: Autosomal recessive trait; onset when child learns to walk; mitochondrial disease.

Ocular: Cataracts; aniridia; rotary and horizontal nystagmus; nystagmus; strabismus; optic atrophy.

Clinical: Cerebellar ataxia; oligophrenia; small stature; scoliosis; genu valgum; restricted extensibility of the knee; defects of fingers and toes; mental retardation; hair sparse; hypersalivation; sensorineural hearing loss.

Dotti MT, et al. Optic atrophy in Marinesco-Sjogren syndrome: an additional ocular feature. Report of three cases in two families. Ophthalmic Paediatr Genet 1993; 14:5-7.

Gillespie FDL. Aniridia, cerebellar ataxia, and oligophrenia in siblings. Arch Ophthalmol 1965; 73:338.

Lindal S, et al. Mitochondrial diseases and myopathies: a series of muscle biopsy specimens with ultrastructural changes in the mitochondria. Ultrastruct Pathol 1992; 16:263-275.

Marinesco G, et al. Nouvelle Maladie Familiale Caracterisee par une Cataracte Congenitale et un Arret du Developpement Somato-NeuroPsychique. Encephale 1931; 26:97.

Sjgren T. Hereditary congenital spinocerebellar ataxia combined with congenital cataracts and oligophrenia. Confinia Neurol 1950; 10[Suppl 46]:293.