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.
See <http://www.genzyme.co.uk/corp/news/all_news/GENL%20PR-060503.asp>. Stem cell and gene therapy research is being investigated in animal models. This child is known to have an unusual stop-codon mutation. Aminoglycosides have been found in animal and small-scale human studies to cause read-through in translation effectively skipping the “stop-codon” and are in clinical trials in other genetic diseases with similar mutations. It was hypothesized that gentamicin would cause read-through in translation in this patient, and thereby increase production of acid sphingomyelinase. After presentation to the Ethics Committee of Lucile Salter Packard Children’s Hospital at Stanford University, the child was treated with an experimental protocol using intranasal gentamicin. This is the first case of NPD-A in which this has been tried.
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.