Medical News Summary: Treatment may now be possible for early diagnosed cases of Niemann-Pick disease
About: Treatment may now be possible for early diagnosed cases of Niemann-Pick disease
Date: 19 December 2004
Source: Herald Tribune
Author: Denise Grady
Medical News Summary (summary of medical news story as reported by Herald Tribune): 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.
URL: http://www.heraldtribune.com/apps/pbcs.dll/article?AID=/20041219/ZNYT02/412190856
Related Disease Topics: Niemann-Pick disease type A, Niemann-Pick disease, Tay Sachs syndrome, Genetic disorder, Tumor, Viral infection
Related Symptom Topics: Pain, tight stomach, swollen stomach, organ damage, brain damage, liver damage, lung damage, mouth sores, pain, hair loss, loss of immunity, susceptibility to infection, fever
Related Medical News Channels: This medical news summary article refers to the following medical channel categories:
- Chemotherapy
- Umbilical cord transplant
- Bone marrow transplant
- Surgery
- Surgery and umbilical cord transplant
- Surgery and bone marrow transplant
- Misdiagnosis (type of Medical misadventure)
- misdiagnosis and Niemann-Pick disease
- misdiagnosis and tumor
- misdiagnosis and viral infection
- misdiagnosis and genetic disorder
- Side effect
- Side effect and chemotherapy
- Side effect and umbilical cord transplant
- Side effect and mouth sores
- Side effect and pain
- Side effect and hair loss
- Side effect and loss of immunity
- Side effect and susceptibility to infection
- Side effect and fever
- misdiagnosis and genetic disorder
- Medication
- Medication and Niemann-Pick disease type A
- medication and Niemann-Pick disease
- Medication and Tay Sachs syndrome
- medication and genetic disorder
- medication and tumor
- medication and viral infection
- medication and pain
- medication and mouth sores
- medication and pain
- medication and hair loss
- Medication and loss of immunity
- medication and susceptibility to infection
- medication and fever
- Diagnosis and Niemann-Pick disease type A
- Diagnosis and Niemann-Pick disease
- Diagnosis and Tay Sachs syndrome
- Diagnosis and genetic disorder
- Diagnosis and tumor
- Diagnosis and viral infection
- Diagnosis and tight stomach
- Diagnosis and swollen stomach
- Diagnosis and organ damage
- Diagnosis and brain damage
- Diagnosis and liver damage
- Diagnosis and lung damage
- Undiagnosed and genetic disorder
- Undiagnosed and Niemann Pick disease
- Undiagnosed and Niemann-Pick disease Type A
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