| NEUROIMAGING |
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| Year : 2022 | Volume
: 17
| Issue : 1 | Page : 85-86 |
Eyeing the spots and the spot in the eye: GM1 gangliosidosis
Madhusudan Samprathi1, Sujata Saraogi2, Subhashree Kar3, Rashmi Ranjan Das4
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
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jpn.JPN_173_20
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.
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