Home | About Us | Editorial Board | Current Issue | Archives | Search | Instructions | Subscription | Feedback | e-Alerts | Login 
Journal of Indian Society of Pedodontics and Preventive Dentistry Official publication of Indian Society of Pedodontics and Preventive Dentistry
 Users Online: 728  
 
  Print this page Email this page   Small font sizeDefault font sizeIncrease font size
 CASE REPORT
Year : 2020  |  Volume : 38  |  Issue : 3  |  Page : 315-318

Hereditary sensory autonomic neuropathy Type VIII: A rare clinical presentation, genomics, diagnosis, and management in an infant


1 Associate Professor of Pedodontia, Department of Pedodontics & Preventive Dentistry, Government Dental College & Hospital, Hyderabad, Telangana State, India
2 Pediatric Dentist, Toothbuddies, Hyderabad, Telangana State, India
3 Professor & HOD, Department of Pedodontics & Preventive Dentistry, Government Dental College & Hospital, Hyderabad, Telangana State, India

Correspondence Address:
Dr. Shaik Hasanuddin
Associate Professor of Pedodontia, Department of Pedodontics & Preventive Dentistry, Room No. 301, 2nd Floor, Government Dental College & Hospital, Hyderabad,T.S., Telangana
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JISPPD.JISPPD_310_19

Rights and Permissions

A 7-month-old female child born to nonconsanguineous parents with a history of global developmental delay, since early infancy had reported to the department with facial features of mild dysmorphism. History of finger sucking and finger biting was evident, as there was a massive scab tissue over the dorsal aspect of the index finger, above the finger nail bed. A huge ulcer was evident on the right side of the dorsal aspect of anterior two-thirds of the tongue. Genetic evaluation through targeted gene sequencing confirmed the diagnosis as hereditary sensory, autonomic neuropathy Type VIII (Online Mendelian Inheritance in Man – 616488). A homozygous missense variation in exon 3 of PRDM12 was detected. A multidisciplinary approach was planned for the management of the child. A soft splint on the maxilla was fabricated and stabilized with an adhesive. However, the final diagnosis was confirmed by a DNA genomic sequencing test, namely a multigene panel testing or comprehensive genomic sequencing.






[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
    Viewed88    
    Printed0    
    Emailed0    
    PDF Downloaded23    
    Comments [Add]    

Recommend this journal

 


Contact us | Sitemap | Advertise | What's New | Copyright and Disclaimer 
  2005 - Journal of Indian Society of Pedodontics and Preventive Dentistry | Published by Wolters Kluwer - Medknow 
Online since 1st May '05