0000000000586008
AUTHOR
Seiji Kimura
Ultrastructural Pathology of Eccrine Sweat Gland Epithelial Cells in Globoid Cell Leukodystrophy
Three of four children were recognized by deficient β-galactocerebrosidase activities as having globoid cell leukodystrophy inclusions in sweat gland epithelial cells, similar in ultrastructure to those seen in Schwann cells. This observation in globoid cell leukodystrophy emphasizes the need to include sweat gland epithelial cells in examinations of skin in globoid cell leukodystrophy, as well as in any neurometabolic disorder. ( J Child Neurol 1993;8:171-174).
Axonal pathology of the skin in infantile neuroaxonal dystrophy.
Ultrastructural studies on the skin of two patients affected by infantile neuroaxonal dystrophy (INAD) were performed to evaluate its diagnostic value and to discuss the etiology of INAD. While the majority of terminal axons around intradermal glands were dystophic consisting of tubulomembranous and tubulovesicular profiles sometimes accompanied by synaptic vesicles, there were only few dystophic axons inside intradermal nerve bundles. These observations suggest that the primary lesion of INAD is located in terminal and presynaptic axons. Therefore, terminal axons have to be investigated when a diagnostic skin biopsy is performed in INAD.
Electron microscopic studies on skin and lymphocytes in early juvenile neuronal ceroid-lipofuscinosis.
Skin and lymphocytes of three patients with early juvenile neuronal ceroid-lipofuscinosis (NCL) were ultras trueturally investigated. Fingerprint profiles (FPP), isolated and I or mixed with curvilinear profiles (CLP), in various dermal cells and large, usually single lipopigments delineated by a trilaminar membrane and filled with a granular matrix, FPP and occasionally lipid droplets in lymphocytes were observed in all three patients. Characteristic lipopigments in lymphocytes are an important feature to differentiate between early juvenile NCL and late infantile and juvenile NCL.
Electron microscopic observation of tonsillar tissue as a diagnostic aid in early juvenile neuronal ceroid-lipofuscinosis.
An electron microscopic observation in a tonsil of a patient with early juvenile neuronal ceroid-lipofuscinosis (NCL) demonstrated characteristic lipopigments in lymphocytes, i.e., fingerprint profiles (FPP) and granular matrixes. While numerous FPP, curvilinear profiles (CLP) and granular matrixes were found in reticulo-endothelial and plasma cells, tonsillar lymphocytes contained only FPP and granular matrixes as seen in circulating lymphocytes. These findings suggest that a tonsil biopsy, an easy and simple technique, may provide more reliable information than a skin biopsy not only for the diagnosis of but also for differentiating the clinical forms of childhood NCL.