GM2 Gangliosidosis
https://www.cureus.com/articles/530138
Sandhoff disease is a rare genetic disorder caused by changes in the HEXB gene that prevents certain fatty substances from being broken down properly. Their buildup in nerve cells can gradually affect movement, coordination, and sometimes mental health. Symptoms in later-onset forms can appear like other neurological or psychiatric conditions, which makes diagnosis challenging. In this case report, researchers described a 38-year-old woman living in the United Arab Emirates with Sandhoff disease and bipolar I disorder, a condition that involves episodes of unusually elevated mood or energy (mania) and sometimes depression. Her movement difficulties began in childhood and progressed to muscle weakness, speech problems, and eventually wheelchair dependence. She also experienced repeated manic episodes, including psychosis, which can make it difficult to distinguish what is real. Genetic testing confirmed Sandhoff disease, while brain imaging showed shrinkage of a part of the brain that helps control balance and coordination, known as the cerebellum. During a hospital stay, she received risperidone, lorazepam, and sodium valproate to manage her psychiatric symptoms, which improved within six days. Although she later experienced depressive symptoms, her family reported psychiatric stability at a follow-up after a period of rehabilitation and physiotherapy. This case highlights why doctors should consider genetic and neurological conditions when psychiatric symptoms occur alongside worsening physical difficulties. Although a single case cannot show whether Sandhoff disease caused her bipolar symptoms, recognising both types of symptoms may help support an earlier diagnosis and better care.