Atormac
brintellex
Neurology India
menu-bar5 Open access journal indexed with Index Medicus
  Users online: 2200  
 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
    Viewed4378    
    Printed136    
    Emailed5    
    PDF Downloaded181    
    Comments [Add]    
    Cited by others 5    

Recommend this journal

 

 CASE REPORT
Year : 2013  |  Volume : 61  |  Issue : 4  |  Page : 411--413

Biotinidase deficiency in childhood


Department of Pediatric Neurology, Kanchi Kamakoti Childs Trust Hospital, Nungambakkam, Chennai, Tamil Nadu, India

Correspondence Address:
Viswanathan Venkataraman
Department of Pediatric Neurology, Kanchi Kamakoti Childs Trust Hospital, 12-A-Nageswara Road, Nungambakkam, Chennai - 600 034, Tamil Nadu
India
Login to access the Email id

Source of Support: Childs Trust Medical Research Foundation, Conflict of Interest: None


DOI: 10.4103/0028-3886.117614

Rights and Permissions

This study reports the clinical, laboratory profile and outcome in seven patients with biotinidase deficiency. The serum biotinidase activity was assayed using spectrophotometric analysis. The age at presentation varied from day 1 of life to the 5 th month. Seizures were the presenting complaint in six patients and clonic seizures were the predominant seizure type. Sparse hair was seen in four patients, while three did not have any cutaneous manifestation. None of the patients had acidosis or hyperammonemia. The clinical response to biotin was dramatic with seizure control in all patients. One patient had neurological deficit at follow-up, while none had optic atrophy or sensorineural hearing loss. Biotinidase deficiency, a potentially treatable condition, should be thought of in any child presenting with neurological symptoms, especially seizures, even in the absence of cutaneous or laboratory manifestations.






[FULL TEXT] [PDF]*


        
Print this article     Email this article

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