ML I (Mucolipidosis I; Lipomucopolysaccharidosis; Dysmorphic Sialidosis; Spranger Syndrome)
General: Rare storage disease; autosomal recessive; increased sialic acid and defici 343i88d ency of the enzyme alpha-N-acetylneuraminidase in cultured mucolipidosis I fibroblasts.
Ocular: Variable corneal clouding; macular cherry-red spot; optic atrophy; lens opacity; pupillary reflexes anomaly; grayish area around cherry-red spot.
Clinical: Moderate progressive mental retardation; skeletal changes of dysostosis multiplex; peripheral neuropathy; myoclonic jerks; tremor; cerebellar signs; gait abnormalities.
Carta F, et al. Mucolipidosis 1: ocular signs in three sisters. Metab Ophthalmol 1985; 8:21-27.
Duane TD. Clinical Ophthalmology. Philadelphia: JB Lippincott, 1987.
Shinkai H, et al. Connective tissue naevus with pseudo-Hurler polydystrophy. Br J Dermatol 1994; 130:528-533.
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