Rare Medical News
5 Facts you should know about
Niemann-Pick disease type B
1
Type B patients also show hepatosplenomegaly and pathologic alterations of their lungs but usually without central nervous system involvement.
2
Signs and symptoms typically develop in the pre-teen years and may include hepatosplenomegaly, short stature, frequent lung infections, and thrombocytopenia.
3
Some patients develop coronary artery or valvular heart disease.
4
In a longitudinal natural history study, nearly 20% of the patients died.
5
Mutations in the SMPD1 gene cause Niemann–Pick disease type B.
Rare Medical News