Classic Infantile Sandhoff

Classic Infantile Sandhoff is the most common form of this rare disease and is characterized by very little to no Hexosaminidase-A (Hex-A) and Hexosaminidase-B(Hex-B) enzyme activity. It is important to note that Sandhoff ‘breeds true in a family,’ which means if a family has a child affected by Classic Infantile Sandhoff their other children will only be at risk for having Classic Infantile Sandhoff. One set of parents could not have a child affected by Classic Infantile and Juvenile or Late Onset Sandhoff.

In Classic Infantile Sandhoff, motor weakness begins in the first 6 months of life and is progressive. Like Tay-Sachs, children with Sandhoff experience the same exaggerated startle reaction to sound; early blindness, progressive mental and motor deterioration, doll-like face, cherry-red spot and enlargement of the head. Loss of swallowing function occurs progressively together with increased risk for aspiration and subsequent chest and lung infections. Death usually occurs due to the latter problems at about 3 years of age. Some involvement of the bones and abdominal organs may occur which is distinct from the child with Tay-Sachs.