What are initial signs of Niemann-Pick disease?

Initial signs of Niemann-Pick disease vary depending on the type of the condition. The two main types of Niemann-Pick disease are type A and type B.

Niemann-Pick disease type A:

- Onset in infancy

- Failure to thrive

- Liver enlargement (hepatomegaly)

- Spleen enlargement (splenomegaly)

- Neurological problems (such as developmental delay, loss of muscle tone, seizures)

- Cherry-red spot in the eye

- Difficulty feeding

- Jaundice

- Bruising

- Anemia

- Respiratory problems

Niemann-Pick disease type B:

- Onset in childhood or adolescence

- Neurological problems (such as dementia, seizures, difficulty with coordination and balance, slurred speech)

- Liver enlargement (hepatomegaly)

- Spleen enlargement (splenomegaly)

- Lung problems (such as shortness of breath, coughing)

- Vision problems

- Difficulty swallowing

- Behavioral problems

It's important to note that not all individuals with Niemann-Pick disease will experience all of these symptoms. The severity and progression of the condition can also vary from person to person. If you or your child is experiencing any of these symptoms, it is important to see a doctor for evaluation. Early diagnosis and treatment can help to improve outcomes for individuals with Niemann-Pick disease.