title: Central nervous system dysfunction as early sign of neuronal ceroid lipofuscinosis (Batten's disease).
abstract: During a survey of neuronal ceroid lipofuscinosis (Batten's disease), two younger siblings of patients were found to have the characteristic vacuolation in 11 to 17 per cent of their lymphocytes. The children were four to five years of age and did not have any overt signs or symptoms of the disease. However, they both had markedly reduced auditory memory-span before decreased vision and funduscopic changes developed. The subsequent course of the disease confirmed the diagnosis. It is concluded that neuronal ceroid lipofuscinosis may affect mental functions much earlier than previously believed.
mesh_terms: D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D006801:Humans; D008214:Lymphocytes / Q000473:pathology; D009460:Neurologic Examination; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis*; D011581:Psychological Tests; D014617:Vacuoles