Salt and pepper syndrome

Salt and pepper developmental regression syndrome is a rare progressive neurological disorder that is inherited in an autosomal recessive pattern, meaning a child is affected only after receiving a changed gene from both parents. It is also known as Amish infantile epileptic syndrome and as GM3 deficiency syndrome, names that point to the Amish community and to a GM3 deficiency. The recorded features are developmental delay, severe intellectual disability, seizures and irregular patches of skin pigmentation. Symptoms begin to show soon after birth, in the newborn period of life. This entry records the condition as a named clinical entity and is not medical advice; diagnosis and care belong to a qualified clinician.