Juvenile ceroid-lipofuscinosis and calcifications of the CNS

The post-mortem brains and spinal cords of 20 juvenile ceroid-lipofuscinosis (JC-L) cases from 1973 to 1987 were investigated. Clinical course of the disease was characterized by impaired vision from the age of 5-8 years, progressive dementia, seizures, somatic retardation, and early death (16-29 years of age). Microscopy showed classic intracytoplasmic autofluorescent lipopigment in the nerve cells throughout the CNS and viscera. Immunoperoxidase staining for glial fibrillary acidic protein (GFAP) showed marked gliosis with enlarged reactive astrocytes mainly in the superficial layers of the cerebral cortex. Calcifications of the nervous system principally along the outer and inner brain surfaces were demonstrated by X-ray, macroscopic examination and microscopy. We suggest that the calcifications are secondary to a suspected generalized metabolic error.