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 the skin and in lymphocytes. In one patient lymphocyte inclusions were detected before the onset of any symptoms as a result of a family study. This indicates the possibility of screening lymphocytes of siblings of affected patients with a view to early detection of the disorder. Antenatal diagnosis by electron microscopy of foetal lymphocytes may also be possible if the inclusions develop early enough in foetal life. As studies to determine this do not appear to have been done, every opportunity should be taken to examine material from foetuses at risk for the disease.