Neuronal Ceroid‐Lipofuscinosis ‐ Late‐Infantile or Jansky‐Bielschowsky Type ‐ Revisited

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Abstract
The tissues from three patients with late-infantile NCL originally described by Max Bielschowsky became available to apply modern techniques such as fluorescence microscopy, electron microscopy and immunohistochernistry. While regular tinctorial preparations of the tissues documented a neuronal storage disorder in all three patients' tissues, the accumulated material proved to be autofluorescent, showed the ultrastructure of curvilinear lipopig-ments, and reacted strongly with an antibody against the subunit-C of mitochondrial ATP syn-thase, a major component of lipopigments in NCL and also with an antibody against sphingolipid activator proteins. Thus, these modern morphological techniques demonstrated that the originally described three siblings with late-infantile “amau-rotic familial idiocy” really had neuronal ceroid-lipo-fuscinosis of the late-infantile or Jansky-Bielschowsky type, according to current diagnostic criteria. This type of archival study may also contribute to the mosaic of medical history.