Niemann-Pick Disease Type B Diagnosed in the Adulthood

Niemann-Pick disease (NPD) type B is an autosomal recessive liposomal storage disorder. NPD type B can present later in life with predominantly visceral symptoms, and has a more favorable prognosis. The natural history of NPD-B is one of progressive hypersplenism and gradual deterioration of pulmonary function. In this paper, we are presented NPD type B patient who were diagnosed at 41 years old while being followed for years with the diagnosis of interstitial lung disease.