ADULT CEROID-LIPOFUSCINOSIS (KUFS DISEASE) IN 2 BROTHERS RETINAL AND VISCERAL STORAGE IN ONE - DIAGNOSTIC MUSCLE BIOPSY IN THE OTHER

Two brothers developed a neurological condition characterized by homochrony and homotypy: the first symptoms in both were generalized epileptic seizures, occurring at about the same age (30 years in the elder, 32 years in the younger), followed by a cerebellar syndrome with myoclonic jerks and some extrapyramidal symptoms. The elder of the two boys died at the age of 33 years. Histology showed extensive storage of ceroid-lipofuscin in the central nervous system (curvilinear bodies), in hepatocytes, in heart muscle and in the retina. In the younger boy, still living, a muscle biopsy (peroneal muscle) revealed accumulation of membrane-bound osmiophilic inclusions with curvilinear profiles. Retinal storage in Kufs' disease has never been documented. Muscle biopsy as a diagnostic tool for Kufs' disease has not been reported. © 1979 Springer-Verlag.