home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 2899      Small font sizeDefault font sizeIncrease font size Print this page Email this page
Year : 2022  |  Volume : 17  |  Issue : 1  |  Page : 85-86

Eyeing the spots and the spot in the eye: GM1 gangliosidosis

1 Department of Pediatrics, Rainbow Children’s Hospital, Bengaluru, Karnataka, India
2 Department of Pediatrics, Fakir Mohan Medical College, Balasore, Odisha, India
3 Department of Pediatrics, SCB Medical College, Sardar Vallab Bhai Postgraduate Institute of Pediatrics, Cuttack, Odisha, India
4 Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Bhubaneswar, Odisha, India

Correspondence Address:
Dr. Madhusudan Samprathi
Department of Pediatrics, Rainbow Children’s Hospital, Bannerghatta Road, Bengaluru 560076, Karnataka
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jpn.JPN_173_20

Rights and Permissions

A meticulous clinical examination is indispensable in the diagnosis of neurometabolic disorders. We describe an 11-month-old girl with the classical “Hurler phenotype” who was referred to us with a diagnosis of mucopolysaccharidosis. But on “eyeing” the extensive Mongolian spots on the back and the cherry red spot in the eye, GM1 gangliosidosis were suspected and confirmed by enzyme assay. Examination of the fundus and the presence of extensive Mongolian spots can provide valuable clues to the diagnosis of metabolic disorders.


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 Downloaded44    
    Comments [Add]    

Recommend this journal