ArticleInternational journal of clinical pediatric dentistry2025
Subacute Juvenile Sandhoff Disease: A Progressive Neurodegenerative Disorder.
Article in International journal of clinical pediatric dentistry, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Aim: To present a case of subacute juvenile Sandhoff disease (SD), a rare neurodegenerative disorder occurring in 1 in 4,00,000. Background: SD is a rare neurodegenerative disorder grouped under GM2 gangliosidosis that results from a mutation in the Care description: A rare case of a 10-year-old female child presented with right lower tooth pain. She had attained developmental milestones normally until about age 4 but later exhibited regressive changes around 4.5-5 years of age. She became progressively slow and unsteady. Investigations, including magnetic resonance imaging (MRI) of the brain, whole-exome sequencing, and biochemical genetic testing, led to a diagnosis of SJSD. Conclusion: Not much literature has been published to highlight how SJSD impacts daily life and function. However, the functional limitations resulting from neurodegeneration may adversely affect daily activities. Clinical significance: SJSD needs multidisciplinary involvement, including a physiotherapist, speech therapist, and psychiatrist, to monitor the prognosis regularly, diagnose future manifestations requiring supportive care, and ensure adequate functioning and activity of daily living. How to cite this article: Kadam BD, Jampanapalli SR, Ranganathan R,
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