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.

Lafora's disease and brain calcifications.

The brain from a 22-year-old man with progressive myoclonal epilepsy (Lafora's disease) was examined. Besides widespread inclusion bodies in the nerve cells calcifications were seen on the inner and outer surface of the brain. No gliosis was present but the astrocytes were enlarged. They were unrelated to the inclusion bodies, as demonstrated in combined stainings with glial fibrillary acidic protein (GFAP)-PAS or GFAP-Bodian. A transport of an abnormal metabolic product is suggested.

Cardiac involvement in juvenile amaurotic idiocy--a specific heart muscle disorder. Histological findings in 13 autopsied patients.

Juvenile amaurotic idiocy (JAI) is a rare disorder of autosomal recessive inheritance. It belongs to the so called ceroid lipofuscinoses and the central nervous system is the largest organ. Only very few reports refer to the accumulation of lipopigment in the heart of JAI patients. This study describes the morphology of the heart from all 13 patients with JAI in Denmark who died within a seven year period; electrocardiographic findings are related to structural changes. All compartments of the heart were involved, including the conduction system. Not only very substantial deposition of lipopigment was found in the myocytes, but we have also observed striking amounts of calcium and cholesterol compounds indicating a restrictive type of heart muscle disorder. These structural changes are uniform from case to case. Because of the nature of the disease only rather poor information of the cardiac state is available in JAI patients. 11 patients showed some cardiac enlargement. In 6 patients abnormal P-waves were recorded in the ECG suggesting increased atrial and ventricular diastolic pressure. 2 patients had bradycardia, probably due to sinus node involvement, and one patient developed complete right bundle branch block. However, in the 4 patients in whom the cardiac conduction system could be examined histologically no evidence of disturbance of cardiac impulse formation and conduction was seen in the few standard ECG strips available in spite of extensive deposition of abnormal material throughout the conduction system. There seems to be a discrepancy between the relatively minor functional disturbances observed and the heavy morphological changes of the entire heart. This aspect, however, may well be altered by an intensified clinical observation and examination of JAI patients.