Niemann-pick types a/b

The first symptom in children with Niemann-Pick disease type A is usually a very large liver and spleen (also known as "hepatosplenomegaly"). This typically appears by 3 months of age. At the same time, children with this condition do not grow and gain weight as much as expected. This is called "failure to thrive." Children with Niemann-Pick disease type A usually develop normally until about age 1, but then start to regress, or lose skills they had previously learned. They also usually develop problems with their lungs. Children with Niemann-Pick disease also have a cherry-red spot seen at the back of the eye, which may not present at birth but eventually is noted on eye examination.

The onset of Niemann-Pick disease type A is usually by 3 months of age. The onset of Niemann-Pick Disease Type B is usually in mid-childhood.

Health problems associated with Niemann-Pick disease type A include:

• Enlarged liver and spleen (hepatosplenomegaly)
• Difficulty gaining weight and growing (failure to thrive)
• Loss of skills previously learned (developmental regression)
• Lung damage, leading to recurrent infections and respiratory failure
• Loss of intellectual abilities

The symptoms of Niemann-Pick disease (SMPD1-associated) can look a lot like:

• Gaucher disease
• Mucolipidoses
• Muchopolysaccharidoses
• Hexosaminidase A deficiency
• Sandhoff disease
• Niemann-Pick disease type C
• Wolman disease
• Familial hemophagocytic lymphohistiocytosis
• Glycogen storage disease type I

People with Niemann-Pick disease (SMPD1-associated) can have an unusual finding in their eye called a "cherry-red spot." This bright red spot can be seen by an eye doctor when doing an eye exam. All children with Niemann-Pick Disease type A have a cherry red spot, but only about 1/3 with type B have one. This cherry-red spot is due to the accumulation of fat in certain eye cells.

Niemann-Pick disease (SMPD1-associated) has complete penetrance, which means that everyone with changes/mutations in both copies of their SMPD1 gene will have some symptoms of the condition. However, it does have variable expression, which means that people with the condition can have different symptoms. This is most obvious when talking about type A vs. type B, since type B is much less severe. However, people with type B can even have very different symptoms from each other.

People with Niemann-Pick disease type B usually have a large liver and spleen (hepatosplenomegaly), frequent lung infections, and decreased number of platelets in the blood (thrombocytopenia). Platelets are the blood cells that help blood clot when you are cut or injured. People with this condition are also usually shorter than other people their age. Some people may have neurological (nervous system) impairments. Approximately 1/3 of children with type B also have a cherry-red spot seen on eye examination.

Health problems associated with Niemann-Pick disease type B include:

• Enlarged liver and spleen (hepatosplenomegaly)
• Frequent lung infections
• Decreased number of platelets in the blood (thrombocytopenia). Platelets are the blood cells that help blood clot when you are cut or injured.
• High levels of fats in the blood
• Bone problems, including short stature and late mineralizationof the bones (delayed bone age)
• Neurological (nervous system) problems (in about 1/3 of people)