Metachromatic leukodystrophy

An autosomal recessive inherited disorder characterized by abnormalities in the development of the myelin sheaths. It is caused by a deficiency of the enzyme arylsulfatase A. There are three forms of this disease: late infantile, juvenile, and adult. In the late infantile form symptoms include muscle weakness and rigidity, gait disturbances, developmental delays, and seizures. In the juvenile form symptoms include gait disturbances, mental deterioration and seizures. The adult form is characterized by psychotic symptoms and dementia.

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Recent Cases of Metachromatic leukodystrophy

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Priyankha Gigi

MBBS Student

metachromatic leukodystrophy enzyme defect-arylsulfatase A lipid accumulating- cerebroside sulfate salient features-mental retardation, progressive paralysis, dementia in adult form, nerve stain yellowish brown with cresyl violet

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Dr. Bhimjibhai Aghara

General Practice

For which of the following diseases the enzyme replacement therapy is available? A Albinism B Niemann-pick disease C Metachromatic leukodystrophy D Gaucher disease

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Dr. Bhimjibhai Aghara

General Practice

D is the correct answer

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Top Cases of Metachromatic leukodystrophy

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Karishma Mattalwar

MBBS Student

a)Asteroid body - sporotrichosis b)Babes -Ernst bodies -metachromatic granules. c)Bamboo bodies - Asbestosis d) Bollinger bodies -Fowlpox e)Chromatid bodies - E.histolytica ...See More

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