Electron microscopy of skin and peripheral blood lymphocytes in the diagnosis of early infantile (Santavuori) neuronal ceroid lipofuscinosis

The classification and diagnostic histopathological features of the various types of neuronal ceroid lipofuscinosis (Batten’s disease) will be described briefly. An account will then be given of 2 siblings with the early infantile (Santavuori) type in whom the diagnosis was made by electron microscopy of skin biopsies and peripheral blood lymphocytes. In both patients characteristic osmiophilic inclusion bodies were found in various cells in …