Niemann-Pick Disease

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:

Affecting school-aged children Ataxia (walking difficulties) Difficulty with limb movements Eye movement problems Hepatomegaly Jaundice Learning problems Loss of muscle tone Seizures Slurred speech Splenomegaly Tremors

Symptoms of Niemann-Pick disease in adults includes splenomegaly and neurological disturbances. Complications of Niemann-Pick disease are:

Blindness Brain damage Deafness Death Increased nervous system involvement and deficits

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