NEURONAL CEROID-LIPOFUSCINOSIS - LATE-INFANTILE OR JANSKY-BIELSCHOWSKY TYPE - REVISITED

The tissues from three patients with late-infantile NCL originally des cribed by Max Bielschowsky became available to apply modern techniques such as fluorescence microscopy, electron microscopy and immunohistoc hemistry. While regular tinctorial preparations of the tissues documen ted a neuronal storage disorder in all three patients' tissues, the ac cumulated material proved to be autofluorescent, showed the ultrastruc ture of curvilinear lipopigments, and reacted strongly with an antibod y against the subunit-C of mitochondrial ATP synthase, a major compone nt of lipopigments in NCL and also with an antibody against sphingolip id activator proteins. Thus, these modern morphological techniques dem onstrated that the originally described three siblings with late-infan tile ''amaurotic familial idiocy'' really had neuronal ceroid-lipofusc inosis of the late-infantile or Jansky-Bielschowsky type, according to current diagnostic criteria. This type of archival study may also con tribute to the mosaic of medical history.