1/4. Diagnostic value of electron microscopy in a case of juvenile neuronal ceroid lipofuscinosis.Neuronal ceroid lipofuscinoses (NCLs) represent a large group of inherited neurodegenerative disorders characterized by an abnormal accumulation of lipopigment in neuronal and extraneuronal cells. The authors present a case of juvenile neuronal ceroid lipofuscinosis in a 7-year-old boy. Ultrastructural examination of a skin biopsy disclosed deposits of curvilinear profiles and fingerprint-like structures in epithelial cells of sweat glands, endothelial cells, peripheral nerve endings, and fibroblasts. These findings allowed specific confirmation of the assumed diagnosis of juvenile neuronal ceroid lipofuscinosis. Due to the genotypic and phenotypic variability within the group of NCLs, the clinical investigation may be long and complicated. With the NCL disorders in mind, an accurate diagnosis based on ultrastructural examination of a skin biopsy may shorten this investigation, thus benefitting the patient.- - - - - - - - - - ranking = 1keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
2/4. adult ceroid-lipofuscinosis: diagnostic value of biopsies and of neurophysiological investigations.In a sibship of ten, three brothers presented with an adult form of ceroid-lipofuscinosis. The diagnosis was confirmed by necropsy of the first patient and was made by electron microscopy of eccrine sweat glands and of skeletal muscles in the two others. Somatosensory evoked potentials were characterised by biphasic, nearly monophasic, very high voltage complexes totally unlike those found in normal controls. Similar sensory evoked potentials were however recorded in other types of ceroid-lipofuscinosis. While electron microscopy of easily available tissues gives fairly specific results, sensory evoked potentials can bring supportive diagnostic evidence in adult ceroid-lipofuscinosis.- - - - - - - - - - ranking = 1keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
3/4. Neuronal ceroid lipofuscinosis in the amaurotic retardate: electron microscopic confirmation.The clinical features of two cases of blindness with pigmentary retinopathy in young retardates are presented. The diagnosis of neuronal ceroid lipofuscinosis (Batten's disease) was suspected. This was confirmed in both cases by electron microscopic examination of blood and skin with demonstration of fingerprint and curvilinear inclusions. These inclusions are present in cells other than neurons; circulating lymphocytes, smooth muscle cells and eccrine sweat glands suggesting a more widespread pathological process. Less invasive procedures namely venepuncture and skin biopsy may be preferred to brain and rectal biopsy in the absence of a practical biochemical analysis at the present time.- - - - - - - - - - ranking = 1keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
4/4. Significance of lipopigments with fingerprint profiles in eccrine sweat gland epithelial cells.Lipopigments with fingerprint profiles in eccrine sweat gland epithelial cells are regular findings in childhood NCL. They have also been described in adult NCL (ANCL) a few times, but not consistently. However, they have been considered nonspecific when not matched by similar abnormal profiles in noneccrine sweat gland epithelial cells. These conflicting reports may pose a diagnostic dilemma as outlined in the following 2 examples. Patient 1 is a 20-year-old man who developed severe tetraparesis and dementia over 2 years. Electroencephalogram was abnormal with epileptiform discharges. The patient died at age 21 years without autopsy; no other relatives are known to have a similar disease. Patient 2, a 49-year-old woman, developed ataxia and gait abnormalities when 44 years old, and, later, psychosis and dementia. The patient is still alive; no other family members are similarly affected. Both patient lacked evidence of a retinopathy clinically, funduscopically, and by electroretinography. Both patients showed lipopigments within secretory eccrine sweat gland epithelial cells which harbored unequivocal fingerprint profiles, but not within noneccrine sweat gland cells. Regular lipofuscin was observed in other cells, including skeletal muscle fibers of patient 2.- - - - - - - - - - ranking = 8keywords = sweat gland, sweat, gland (Clic here for more details about this article) |