home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 699      Small font sizeDefault font sizeIncrease font size Print this page Email this page
Year : 2019  |  Volume : 14  |  Issue : 2  |  Page : 90-93

Atypical childhood-onset neuroaxonal dystrophy in an Indian girl

1 Department of Pediatrics, Surya Women and Child Hospital, Jaipur, India
2 Department of Pediatrics, Shree Guru Gobind Singh Tricentenary Medical College and hospital, Delhi- NCR, India
3 Eurofins Genoma Group, Molecular Genetics Laboratory, Via di Castel Giubileo Rome, Italy
4 Department of Molecular Medicine, University of Pavia, Pavia, Italy, and Neurogenetics Unit IRCCS Santa Lucia Foundation, Rome, Italy
5 Division of Pediatric Neurology, Department of Pediatrics, Lady Harding Medical College, New Delhi, India

Correspondence Address:
Dr. Himani Bhasin
Department of Pediatrics, Lady Hardinge Medical College, New Delhi.
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jpn.JPN_91_18

Rights and Permissions

A 7-year-old girl presented with progressive walking difficulties, spasticity, and cognitive decline with onset at 3 years of age. No seizures, vision, or hearing impairment were reported. The magnetic resonance imaging of the brain revealed cerebellar atrophy and evidence of iron deposition in the globi pallidi and substantia nigra. The clinico-radiological profile was suggestive of atypical childhood-onset neuroaxonal dystrophy. The patient was found to have compound heterozygous mutations in the PLA2G6 gene confirming the diagnosis.


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
    PDF Downloaded57    
    Comments [Add]    
    Cited by others 2    

Recommend this journal