Neurobionplus
Home About Journal AHEAD OF PRINT Current Issue Back Issues Instructions Submission Search Subscribe Blog    
Login 

Users Online: 503 
Print this page  Email this page Small font sizeDefault font sizeIncrease font size 
CASE REPORT
Year : 2013  |  Volume : 47  |  Issue : 2  |  Page : 200-203

Cerebrotendinous xanthomatosis


Department of Orthopaedics, Konaseema Institute of Medical Sciences (KIMS), Amalapuram, East Godavari District, Andhra Pradesh, India

Correspondence Address:
Satyadev Vadapalli
Prof. of Orthopaedics, Department of Orthopaedics, Konaseema Institute of Medical Sciences (KIMS), Amalapuram, East Godavari District, Andhra Pradesh 533201
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5413.108918

Rights and Permissions

Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disorder affecting the biosynthetic pathway of bile acids, leading to increased cholestanol formation and its accumulation in various tissues. Patients can present with tendon xanthomas, gait abnormalities, osteoporosis with or without a pathological fracture, diminished vision, intractable diarrhoea, seizures, ataxia, psychosis, and mental retardation. We report a 20-year-old man who presented with multiple recurrent tendon swellings and seizures. The earlier diagnosis and treatment helps in preventing the devastating neurological sequalae of this sinister condition. Treatment with chenodeoxycholic acid is crucial in preventing the progression of this rare disorder.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed2084    
    Printed31    
    Emailed0    
    PDF Downloaded104    
    Comments [Add]    

Recommend this journal