A 34-month female with Niemann-Pick Disease, Type A (NPD-A) is presented. NPD-A is a rare autosomal recessive, hereditary lysosomal storage disease caused by reduced acid sphingomyelinase (ASM) activity. Reduced sphingomyelinase activity resulting in impaired sphingomyelin turnover leads to cellular lipid and lysosomal storage (foam cells), hepatosplenomegaly, delay and loss of developmental milestones, and degenerative neurologic deficits. Death occurs in infancy or early childhood, with the usual life span being 2-3 years. No effective treatment for NPD-A is known, although bone marrow transplantation and enzyme replacement therapy with ASM have been attempted. [Both have been tried for NPD-B, but I do not know if either of these techniques have been tried for NPD-A. This is true that no successful treatment has been demonstrated for humans with NPD-A, yet the Genzyme studies using adeno viruses were successful for mice.
This patient has also been treated with Traditional Chinese Medicine including acupuncture and botanicals, massage therapy, nutritional measures, homeopathy, energy healing and compassionate intention in an Integrative Medicine approach. Disease characteristics, clinical features and course will be described.