[Niemann-Pick disease type B: An enzymatically confirmed case with unexpected retinal involvement (author's transl)]

Abstract

In a 6-year-old girl with normal to outstanding intelligence Niemann-Pick disease was diagnosed by the demonstration of an about 90% deficient sphingomyelinase activity. Abnormalities of the eye fundi are described which are comparable to but quantitatively deviate from the classic cherry-red spot as known from neurolipidoses. The brownish-red foveola was surrounded by a relatively thin opaque ring around which punctate white deposits (lipids?) could be detected. The absence of any other neurologic symptom was in contrast iwth an extreme hepatosplenomegaly, foam cells in the bone marrow, lung infiltration, underweight, and undergrowth. Therefore, the case was classed with the type B of Niemann-Pick disease, although the common definition of this type excludes cerebral as well as oculoneural involvement. In the literature only one comparable case could be found which, however, had not been enzymatically confirmed. In the future the definition of type B of Niemann-Pick disease should include the possibility of oculoneural involvement.