Summary
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.
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Dom, R., Brucher, J.M., Ceuterick, C. et al. Adult ceroid-lipofuscinosis (Kufs' disease) in two brothers. Retinal and visceral storage in one; Diagnostic muscle biopsy in the other. Acta Neuropathol 45, 67–72 (1979). https://doi.org/10.1007/BF00691807
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DOI: https://doi.org/10.1007/BF00691807