Dollinger-bielschowsky syndrome (jansky-bielschowsky syndrome; infantile amaurotic familial idiocy [late]; infantile ganglioside lipidosis [late]; bielschowsky-jansky disease) 378

General: Late infantile form of neuronal ceroid lipofuscinosis; onset age 2 to 5 years; autosomal recessive; other neuronal ceroid lipofuscinoses include infantile (Santavuori-Haltia), juvenile (Spiel-Meyer-Sjögren), and adult (Kufs-Hallervorden).

Ocular: Optic nerve atrophy; macular pigmentation.

Clinical: Cerebroretinal degeneration; cerebellar ataxia; defective hearing; convulsions; spasticity; contractures; progressive mental deterioration.

Bateman JB, Philippart M. Ocular features of the Hagberg-Santavuori syndrome. Am J Ophthalmol 1986; 102: 262-271.

Bielschowsky M. Uber Spatintatile Familiare Amaurotische Idiotie Mit Klein Hirn-symptomen. Dtsch Z Nervenh 1914; 50:7-29.

Brod RD, et al. Diagnosis of neuronal ceroid lipofuscinosis by ultrastructural examination of peripheral blood lymphocytes. Arch Ophthalmol 1987; 105:1388-l393.

Dollinger A. Zur Klinik der Infantiler Form der Familioren Amaurotischen Idiotie (Tay-Sachs). Einige neue Symptome. Ein Beitrag zu den von Magnus beschrie-benen Tonischer. Hals-und Labyrinth Reflex. Z Kinderh 1919; 22: 167-l94.

Goebel HH, et al. An ultrastructural study of the retina in the Jansky-Bielschowsky type of neuronal ceroid lipofuscinosis. Am J Ophthalmol 1977; 83:70-79.