Question of the Week

Question :
Posted On : 06 Jul 2006
Dear sir 4y male child present with abnormal jerky movement involving all the body with ataxia and frequent falling.Mentation is going down with abnormal behaviour and loss of previous skills.All his symptoms started one year ago,before that he is quite normal.Family history is plus ve for similar illness in 2sibs,male and female,both died at the age of 6y..Both parents are close relative . O,E nice child look abnormal ,ataxic, recurrent myoclonic fits.He is blind,deaf,spastic.CAT scan reveal mild brain atrophy. 1.What is the dx? 2.Any treatment...?
5
Expert Answer :
No expert answer available.
Answer Discussion :
N
naji
Profile
leukodystrophy.
no treatment

18 years ago
N
nikhil agrawal
Profile
Neurodenegerative disorderMetachromatic leucodystrophy- Tay sachs disease
18 years ago
S
saeedelsadek
Profile
heridetary brain atrophy most likely leucodystrophy
18 years ago
P
pediatriconcall
Profile
Rule out inborn errors of metabolism especially the hereditary ataxia disorders, refsum's disease, metachromatic leukodystrophy and Krabbe's disease. Get his MRI and EEG done. Also an eye examination and bera. Depending on the results of MRI and EEG, further tests would be required.
18 years ago
D
dr atul jindal
Profile
1 friedreich's ataxia
2 vitamin E and acetazolamide

18 years ago




Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0