Sandhoff disease is a lipid storage disorder causing neurological symptoms because brain cells are destroyed. The cause of brain cell destruction is a build up of certain fatty substances. This occurs because the required hexosaminidase enzyme is lacking.
Sandhoff and Tay-Sachs lipid storage diseases cause similar neurological symptoms. Simply put, this is because they both result in the same fatty substance building up. Yet, the health conditions vary slightly because the version of the missing enzyme differs.
Neurological symptoms as well as other symptoms caused by Sandhoff disease may include:
- seizures
- myoclonus
- macrocephaly
- cough problems
- swallowing issues
- muscle weakness
- blindness, deafness
- respiratory problems
- enlarged liver & spleen
- startled by loud sounds
- doll-like facial appearance
- cherry-red spots in the eyes
- frequent respiratory infections
- progressive mental & motor deterioration
The first symptoms begin before a baby’s half year mark, usually noticed by a child’s development digression. And adult and juvenile are two other forms of Sandhoff disease that express similar neurological symptoms, just milder.
There is presently no cure for Sandhoff disease and death usually occurs as a toddler in those with the infantile form. As this lipid storage disorder progresses, treatment in support of neurological symptoms may entail:
- nutrition, fluid support
- maintaining an open airway
- anticonvulsants to control seizures
- drugs to treat respiratory infections
- shaking treatment to remove lung produced mucus
Sandhoff lipid storage disease is a rare genetic disorder and amniocentesis can diagnose Sandhoff disease before birth.