Leukodystrophy

A group of rare genetic neurodegenerative disorders that affect infants and children. These disorders are characterized by metabolic abnormalities in the development of the myelin sheaths in the white matter. Clinical signs and symptoms include developmental delays, mental retardation, dementia, seizures, loss of motor skills, and muscle weakness. Representative examples include metachromatic leukodystrophy, Krabbe disease, Canavan disease, and Alexander disease.

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Recent Cases of Leukodystrophy

Browse recently discussed Leukodystrophy cases by specialists

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. Nihal Ahmad

Unani Medicine

Rare Disease Pelizaeus-Merzbacher ******************************************* Pelizaeus-Merzbacher Disease is a rare inherited condition affecting the brain and spinal cord. The condition delays coordination, motor abilities, and intel...See More

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Top Cases of Leukodystrophy

Selected by editors, top cases are known for unique problem or best solution

Concluded Case

Dr. Manorama Rajan

Neurology

Sero negative Autoimmune Enfephalitis with Refractory Status Epileptic

1yr10m old baby, perfectly healthy till 4 days ago when she developed fever; Almost continuous ranging from 100- 101°F, ...See More

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Dr. Manorama Rajan

Neurology

Thanks Curofy and all Doctors who answered the case. Final diagosis : Seronegative autoimmune encephalopathy with super refractoryStatus Epilepticus. Autoimmune work up including NMDA,AMPA 1 & 2,CASPR 2/ VGKC,LG1,GABA done - ve. Antinucle...

Concluded Case

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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