Arylsulfatase A Deficiency (Metachromatic Leukodystrophy; Sulfatide Lipoidosis Syndrome; Greenfield Disease; Scholz Syndrome; Scholz-Bielschowsky-Henneberg Syndrome; Van Bogaert-Nyssen Disease; Van Bogaert-Nyssen-Peiffer Disea 646d37g se; Familial Progressive Cerebral Sclerosis; Infantile Progressive Cerebral Sclerosis; Infantile Metachromatic Leukodystrophy; Leukodystrophia Cerebri Progressiva Metachromatica Diffusa; Opticochleodentate Degeneration)
General: Accumulation of sulfatide caused by deficient activity of arylsulfatase A; autosomal recessive; familial form of metachromatic leukodystrophy; Greenfield disease (late infantile form); van Bogaert-Nyssen-Peiffer syndrome (adult form); affects central and peripheral nervous systems by demyelination and by accumulation of metachromatic material.
Ocular: Visual loss in association with optic atrophy; strabismus; macular cherry-red spot; corneal opacification; oculomotor disorders (nystagmus, strabismus); optic nerve and retinal demyelination.
Clinical: Motor and mental deterioration with spasticity; paralysis; seizures; dementia; death in early childhood, although attenuated and adult forms of the disease occur; schizophrenia; temporooccipital demyelination; unreactive to visual and auditory stimuli; adult form: moodiness, withdrawal, megalomania, hallucinations, violent reactions, and dementia.
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