Autosomal recessive
Common among Ashkenazi Jewish heritage
Age of onset around 2-6 months
Characteristic findings:
Hypotonia
Loss of motor milestones
Feeding problems
Cherry red macula
Absent reflexes
Hepatosplenomegaly
Three types of Nieman-Pick disease(NPD)
NPD A( severe): No treatment ( supportive )
NPD B
NPD C
