Lysosomal storage in human skeletal muscle. (1986 Aug)
lysosomal storage in human skeletal muscle . skeletal muscle is involved symptomatically in two lysosomal storage diseases , acid maltase deficiency and a similar condition in which enzyme levels are normal . asymptomatic storage in skeletal muscle cells is found in batten Kufs disease ( ceroid lipofuscinosis ) , fabry s disease , and mannosidosis , as well as in rare patients with an unidentified storage disease . other cell types ( vascular endothelium , smooth muscle , fibroblasts , satellite cells ) within the confines of the biopsy specimen may reveal storage in other diseases . The differential diagnosis involves predominantly both normal and abnormal conditions in which acid phosphatase activity is prominent in cells .

Familial Kufs disease presenting as a progressive myoclonic epilepsy. (2000 Nov)
familial Kufs disease presenting as a progressive myoclonic epilepsy . Kufs disease is the adult form of a group of disorders referred to as neuronal ceroid lipofuscinosis or batten s disease . We report here the clinical and anatomopathological features of two young brothers presenting with a progressive myoclonic epilepsy corresponding to type A of the disease according to berkovic . The first clinical manifestations occurred before 20 years of age . diagnosis was made in the older brother at autopsy and in the younger brother from a rectal biopsy . In addition to characteristic electron microscopic findings , enlarged neurons showed strong immunoreactivity against subunit c of mitochondrial ATP synthase which has been reported previously in only a few adult cases of neuronal ceroid lipofuscinosis . An extensive review of the published cases underlines the rarity of this condition , particularly when onset is early .

The ultrastructural characteristics of the abnormal cytosomes in batten Kufs disease. (1977 Jul)
The ultrastructural characteristics of the abnormal cytosomes in batten Kufs disease . patients with batten Kufs disease may be divided into three groups by electronmicroscopy of their storage deposits . In the first group , those characterized by curvilinear profiles , there is a strong correlation with a particular clinical syndrome , the late infantile form of the disease . In the second group , characterized by finger print profiles , there is great diversity as to age and type of presentation . This is paralleled by diversity in the deposits . To the third group belongs the infantile form of the disease , as well as rare patients with later onset . pathological diagnosis can be reliably , conveniently and consistently made from biopsy of skin by electronmicroscopy , and usually from biopsy of skeletal muscle as well .

Autofluorescence emission spectra of neuronal lipopigment in a case of adult onset ceroidosis ( Kufs disease ). (1983 Aug)
autofluorescence emission spectra of neuronal lipopigment in a case of adult onset ceroidosis ( Kufs disease ) . The study reports characteristics of the autofluorescence emission spectra from abnormal accumulations of intraneuronal lipopigment in a case of adult onset neuronal ceroidosis ( Kufs disease ) . these are compared with emission spectra from 14 non diseased brains , and from cases of childhood onset neuronal ceroidoses ( batten s disease ) and animal ceroidoses which have been previously reported . The emission spectra derived from the case of Kufs disease could be distinguished from the spectra from the non diseased brains and from the cases of batten s disease and animal ceroidoses . The characteristics of an emission spectrum probably reflect the composition of the lipopigment , and spectral analysis may aid the identification of different pathogenic mechanisms which underly the various types of neuronal ceroidosis .

Morphological diagnosis and misdiagnosis in batten Kufs disease. (1989 Mar)
morphological diagnosis and misdiagnosis in batten Kufs disease . Skin biopsy is a reliable method for diagnosis of batten disease ; it is probably not reliable in Kufs disease . eccrine secretory cells are the most consistently involved cell type . The abundance of lysosomal storage facilitates diagnosis in infantile and late infantile cases . The curvilinear bodies of the late infantile cases have high specificity and should be easily recognizable , though their lamination must be demonstrable . In the usual juvenile cases the cell types involved are more limited , and a superficial biopsy , which does not include eccrine secretory cells , may be nondiagnostic . these cells may contain fingerprint profiles in occasional juvenile , adolescent , or adult patients with other diseases . Thus , verification of involvement of a second cell type , such as duct cells , schwann cells , and smooth or skeletal muscle , is essential . In all varieties of the disease strict criteria for the ultrastructural patterns must be followed . otherwise , confusion may arise with normal organelles , with banal lipofuscin , or with nonspecific lysosomes .