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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Concluded Case

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

139 Views

, 4 Likes

, 27 Answers

Concluded answer

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...


Top Leukodystrophy Doctors on Curofy

Top doctors who continously share their opinions on Leukodystrophy
Trivandrum
1313 followers

Kerala Institute of Medical Sciences

Professor and Senior Consultant Neurology

Medical College Thiruvananthapuram

MBBS,MD (Med) ,DM(Neurology),DNB(Neurology), FAAN(Fellow of American Academy of Neurology)

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Speaks English, Hindi, Malyalam, Tamil, Arabic
Bangalore
878 followers

General Hospital Kanakapur

Md Pediatrics

MD Pediatrics

pediatrics

User Languages
Speaks English, Hindi, Kannada
Ajmer
730 followers

JLN MC Attached Satellite Hospital

JS Pediatrics

Dr S N Medical College

MBBS, MD

User Languages
Speaks English, Hindi
Telangana State, Hyderabad.
552 followers

Gandhi Medical College.

M.B.B.S.

User Languages
Speaks English, Hindi, Telugu
Balasinor
1108 followers

Shree Krishna Hospital

Resident

Pramukhswami Medical College

MD, INTERNAL MEDICINE

User Languages
Speaks English, Gujarati, Hindi

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