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The parents of a 6 month old baby became concerned when they noticed that the baby's stomach was very tight and swollen. Being pediatrician's they suspected a tumor, viral infection or a genetic disorder. It was several weeks before she was finally diagnosed with Niemann-Pick disease type A which is a rare but severe form of this genetic disorder where the body doesn't have the enzyme to break down a molecule called spingomeylin. Infants initially display very few symptoms but damage is already occurring to the brain, liver, lungs as well as other organs. The lack of treatment for the disease usually results in death within three years. Carriers of the disease have no symptoms and both parents must carry the gene defect in order to pass it on. The disease is more prevalent amongst Jewish people and many carry out tests on the fetus to detect the condition. The mother in this case was stunned as a standard test had not diagnosed her as a carrier. Several US doctors perform bone marrow or umbilical cord blood transplants that can treat Niemann-Pick disease as well as other storage disorders such as Tay Sachs. The 6 month old infant was given 8 days of chemotherapy which resulted in mouth sores so bad that a feeding tube and morphine was required. Following the cord-blood transplant, she suffered from severe breathing problems, hair loss, loss of immunity, susceptibility to infections and fever. However, within a month, her body had established the necessary level of the missing enzyme and her body started to recover. The long term prognosis is still unknown but the girl is continuing to improve.
Source: summary of medical news story as reported by Herald Tribune
About: Treatment may now be possible for early diagnosed cases of Niemann-Pick disease
Date: 19 December 2004
Source: Herald Tribune
Author: Denise Grady
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