About The Medical Condition Cerebroside Sulphatase Deficiency Disease

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Find the definition of the medical term Cerebroside Sulphatase Deficiency Disease. Cerebroside Sulphatase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Cerebroside Sulphatase Deficiency Disease

Cerebroside Sulphatase Deficiency Disease Medical Condition Defined & Explained
Cerebroside Sulphatase Deficiency Disease Medical Condition

What's The Definition Of The Medical Condition Cerebroside Sulphatase Deficiency Disease?

An autosomal recessive lysosomal storage disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to an accumulation of cerebroside sulfate in the nervous system and other organs. Pathologic features include diffuse demyelination and metachromatically-staining granules within glial cells, macrophages, and free in tissue. Clinical subtypes include late infantile, juvenile, and adult forms. The late infantile form presents at 12-18 months of age with progressive psychomotor retardation, ATAXIA, spasticity, and OPTIC ATROPHY. The juvenile form has onset at 4-12 years and features behavioral alterations and ataxia followed by spasticity, DEMENTIA, and visual loss. The adult form presents in the second decade or later with psychiatric manifestations, gait difficulties, and less often as a peripheral neuropathy. (From Menkes, Textbook of Child Neurology, 5th ed, pp192-5)

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