- Late-onset Sandhoff disease can present with neuropsychiatric features and mimic primary psychiatric disorders such as bipolar disorder.
- Case: 38 year old woman with bipolar I developed progressive motor incoordination, speech impairment, weakness, cerebellar signs and neuroimaging changes; genetic confirmation.
- Consider metabolic or neurogenetic disorders when psychiatric symptoms occur with progressive neurological signs; multidisciplinary assessment and targeted treatment improved psychiatric stability.
Cureus. 2026 Aug 31;18(8):e115548. doi: 10.7759/cureus.115548. eCollection 2026 Aug.
ABSTRACT
Late‑onset Sandhoff disease is a rare lysosomal storage disorder that may present with neuropsychiatric features. This report describes a 38-year-old woman with an established diagnosis of bipolar I disorder who developed progressive neurological symptoms alongside an acute manic and psychotic episode. Her presentation included motor incoordination, speech difficulties, weakness, and functional decline, accompanied by cerebellar signs on neurological examination and structural changes on neuroimaging. Genetic evaluation confirmed a pathogenic variant consistent with Sandhoff disease. The acute psychiatric episode was managed with antipsychotic and mood‑stabilizing treatment, leading to resolution of manic symptoms and subsequent psychiatric stability during rehabilitation and follow‑up. This case highlights the importance of considering an underlying metabolic or neurogenetic disorder when psychiatric symptoms occur in the context of progressive neurological findings, as such comorbidity can complicate diagnosis and management and requires a multidisciplinary approach.
PMID:42823992 | PMC:PMC13626867 | DOI:10.7759/cureus.115548
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