Summary
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 with 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 diesease should include the possibility of oculoneural involvement.
Zusammenfassung
Bei einem normal bis überdurchschnittlich intelligenten 6-jährigen Mädchen mit enzymatisch gesicherter Niemann-Pickscher Krankheit (Restaktivität der Sphingomyelinase ca.10 % der Norm) werden Augenhintergrundsveränderungen beschrieben, die denjenigen des klassischen kirschroten Flecks bei Neurolipidosen ähnlich, jedoch quantitativ davon abgrenzbar sind. Es handelt sich um eine ringförmige retinale Opacität in der unmittelbaren Umgebung der bräunlich-rot erscheinenden Foveola mit zusätzlichen punktförmigen weißen Einlagerungen (Lipide?). Dem Fehlen jeglicher sonstiger neurologischer Symptomatik stehen eine extreme Hepatosplenomegalie, Speicherzellen im Knochenmark, Lungeninfiltration, Untergewicht und Minderwuchs entgegen. Daher wird der Fall dem Typ B der Niemann-Pickschen Erkrankung zugerechnet, obwohl zu diesem Typ definitionsgemäß keine zentralnervöse und bisher speziell auch keine oculo-neurale Beteiligung gehörte. In der Literatur wurde ein vergleichbarer Fall vorgefunden, der allerdings ohne enzymatische Sicherung blieb. Die Definition des Typs B der NiemannPickschen Erkrankung sollte künftig die Möglichkeit der oculo-neuralen Beteiligung einschließen.
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Herrn Professor Dr. E. Custodis zum 80. Geburtstag gewidmet
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Harzer, K., Ruprecht, K.W., Seuffer-Schulze, D. et al. Morbus Niemann-Pick Typ B — enzymatisch gesichert — mit unerwarteter retinaler Beteiligung. Albrecht von Graefes Arch. Klin. Ophthalmol. 206, 79–88 (1978). https://doi.org/10.1007/BF00414616
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DOI: https://doi.org/10.1007/BF00414616