Niemann-pick syndrome (essential lipoid histiocytosis; sea-blue histiocytosis; sphingomyelinase deficiency) 8

General: Phospholipidosis with degeneration of ganglion cells of CNS and lipid storage involving entire reticuloendothelial system and parenchymatous tissue; autosomal recessive; occurs during first few months of life; similar to Tay-Sachs syndrome; predisposition for Jews (see Tay-Sachs Syndrome); lysosomal storage disease resulting from diminished activity or deficiency of sphingomyelinase.

Ocular: Vision may be reduced but usually not complete blindness; cherry-red spot of macula, similar to that of Tay-Sachs syndrome; progressive optic atrophy; supranuclear ophthalmoplegia; periorbital fullness; macular halo syndrome; abnormal visual evoked potentials.

Clinical: Mental retardation; extensive hepatosplenomegaly; epileptic seizures; progressive physical deterioration; deafness; skin pigmentation; abdominal enlargement.

Breen L, et al. Juvenile Niemann Pick disease with vertical supranuclear ophthalmoplegia: two case reports and review of the literature. Arch Neurol 1981; 38:388-390.

Filling-Katz MR, et al. Ophthalmologic manifestations of type B Niemann-Pick diseases. Metab Pediatr Syst Ophthalmol 1992; 15:16-20.

Libert J, et al. Ocular findings in Niemann-Pick disease. Am J Ophthalmol 1975; 80:991-l002.

Merin S, et al. Conjunctival ultrastructure in Niemann-Pick disease type C. Am J Ophthalmol 1980; 90:708-714.

Sperl W, et al. A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate. J Inherit Metab Dis 1994; 17:93-l03.

Walton DS, et al. Ocular manifestations of group A Niemann-Pick disease. Am J Ophthalmol 1978; 85:174-l80.