Gangliosidosis gmi type 1 (generalized gangliosidosis [infantile]; norman-landing syndrome; pseudo-hurler lipoidosis) 4

General: Absence of A, B, and C isoenzymes of β-galactosidase visceral tissue and mucopolysaccharides in visceral tissues; both sexes affected; autosomal recessive; onset from birth; death from age 6 months to 2 years; defect has been localized to chromosome 3 (3p12-3p13).

Ocular: Macular cherry-red spots; optic disk pallor; nystagmus; esotropia; corneal clouding; retinal artery tortuosity and narrowing; retinitis pigmentosa; macular cherry-red spot found in 50% of patients with this disorder.

Clinical: Cerebral degeneration combined with visceromegaly and skeletal dysplasia; mental and motor retardation; seizures; deafness; spastic quadriplegia; feeding difficulties; recurrent bronchopneumonia; broad nose; frontal bossing; prominent maxilla; hepatosplenomegaly.

Landing BH, et al. Familial neurovisceral lipidosis. Am J Dis Child 1964; 108:503-582.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

Norman RM, et al. Tay-Sachs disease with visceral involvement and its relation to gargoylism. Arch Dis Child 1964; 39:634-640.

Smith LH. Inherited metabolic disease with pediatric ocular manifestations. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology, vol. IV Philadelphia: WB Saunders, 1994:2777.