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 CASE REPORT
Year : 2017  |  Volume : 12  |  Issue : 1  |  Page : 78-79

Sandhoff disease without hepatosplenomegaly due to hexosaminidase B gene mutation


1 Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
2 Department of Neuroradiology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India

Correspondence Address:
Vykuntaraju K Gowda
Bangalore Child Neurology and Rehabilitation Center, No. 8/A, First Main, First Cross, Near Adhichunchanagiri Choultry, Vijayanagar, Bengaluru - 560 104, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1817-1745.205623

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Sandhoff disease is a neurodegenerative disease caused due to deficiency of hexosaminidase (HEX) A and B. A 1-year-old male child presented with regression of milestones, exaggerated startle response, decreased vision, and seizures from 6 months of age. The child had coarse facies without hepatosplenomegaly. Serum levels of β hexosaminidase total (A + B) were low. Genetic testing for Sandhoff disease revealed a homozygous missense variant on HEXB gene. The case is presented to highlight that the absence of hepatosplenomegaly should not restrain in suspecting Sandhoff disease.






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