Niemann-Pick disease, also known as acid sphingomyelinase deficiency, is an inherited, congenital disorder affecting an enzyme known as acid sphingomyelinase. If a person is missing acid sphingomyelinase or if their body produces this enzyme in a defective manner, then breakdown of sphingomyelin cannot occur. Build up of this fat in tissues and organs can cause many problems throughout the body. Niemann-Pick disease can present in several forms, affecting different age groups and presenting with different groups of symptoms. Symptoms of Niemann-Pick disease type A and B are:
- Affecting Babies through adolescent aged children
- Abdominal swelling
- Dyspnea (difficulty breathing)
- Failure to thrive when young
- Feeding difficulties in babies
- Hepatomegaly, splenomegaly (enlarged liver, spleen)
- Increased occurrence of respiratory infections
- Loss of motor skills
- Red spot in eye
Symptoms of Niemann-Pick disease type C and D are:
Increased nervous system involvement and deficits
Symptoms of Niemann-Pick disease in adults includes splenomegaly and neurological disturbances. Complications of Niemann-Pick disease are:
The worsening nerve degeneration of Niemann-Pick disease can be confused with similar symptoms of other degenerative nerve conditions such as Krabbe disease, childhood disintegrative disorder, and metachromatic leukodystrophy.
If you or a loved one suffered harm or a death due to a misdiagnosis of Niemann-Pick disease or another sphingolipid metabolic disorder, you may be eligible for damages. Call the Sweeney Law Firm and let us review the facts to see if you have a medical malpractice case. If we take your case, there is no charge for representation unless a settlement or recovery of funds is made on your behalf.
Related articles available on this site: Sphingolipidoses, Fabry disease, Metachromatic leukodystrophy, Tay-Sachs disease, Childhood disintegrative disorder