Atormac
briv
Neurology India
menu-bar5 Open access journal indexed with Index Medicus
  Users online: 5534  
 Home | Login 
About Editorial board Articlesmenu-bullet NSI Publicationsmenu-bullet Search Instructions Online Submission Subscribe Videos Etcetera Contact
  Navigate Here 
 »   Next article
 »   Previous article
 »   Table of Contents

 Resource Links
 »   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
    Viewed326    
    Printed0    
    Emailed0    
    PDF Downloaded19    
    Comments [Add]    

Recommend this journal

 

 CASE REPORT
Year : 2021  |  Volume : 69  |  Issue : 4  |  Page : 1021--1023

Cerebral Venous Sinus Thrombosis in a Child with Lesch–Nyhan Syndrome


1 Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
2 Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
3 Department of Radiodiagnosis, Jai Prakash Narayan Trauma Centre, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Sheffali Gulati
Child Neurology Division, Department of Pediatrics, Room No. 3056, Third Floor, Teaching Block, All India Institute of Medical Sciences, New Delhi
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.325342

Rights and Permissions

Lesch–Nyhan syndrome is a rare neurometabolic condition characterized by progressive choreoathetosis, intellectual disability, and peculiar manifestations like self-mutilation. Occasional case reports in adults have suggested an association between Lesch–Nyhan syndrome and hypercoagulability; however, no such report of either a venous or arterial stroke in children with Lesch–Nyhan Syndrome exists in literature. We present a 3-year-old boy with global developmental delay, dystonic posturing, choreoathetoid movements, and self-mutilation involving fingers and lips. He had acute worsening of sensorium, recurrent seizures, and opisthotonous posturing. A diagnosis of Lesch–Nyhan Syndrome was confirmed by extremely low hypoxanthine-guanine phosphoribosyltransferase enzyme levels. In view of an acute neurological deterioration, magnetic resonance imaging brain and magnetic resonance venogram were done that showed sagittal and left transverse venous sinus thrombosis. This case is the first case report of cerebral venous sinus thrombosis in a child with Lesch–Nyhan Syndrome. It further strengthens the association between hypercoagulability and Lesch–Nyhan syndrome.






[FULL TEXT] [PDF]*


        
Print this article     Email this article

Online since 20th March '04
Published by Wolters Kluwer - Medknow