title: Electron microscopic finding of eccrine sweat gland epithelial cells in a patient with Krabbe disease.
abstract: A 13 month old boy was found to have severely reduced beta-galactocerebrosidase activity suggesting infantile Krabbe disease. Clinically, the patient showed a progressive neurological deterioration with white-matter disease on radiological study. Axillary skin biopsy was performed to support the diagnosis. On electron microscopy, needle-like inclusions, which are the typical finding seen in the cytoplasm of astrocytes and Schwann cells in the classic infantile form, were present in eccrine sweat gland epithelial cells. This method is useful for diagnosis when nerve biopsy and biochemical analysis are not readily available.
authors.affiliation: Department of Pediatrics, School of Medicine, Kanazawa University, Ishikawa, Japan.
authors.forename: I
authors.initials: I
authors.lastname: Ohno
authors.forename: K
authors.initials: K
authors.lastname: Shinoda
authors.forename: K
authors.initials: K
authors.lastname: Tsugawa
authors.forename: N
authors.initials: N
authors.lastname: Takizawa
authors.forename: N
authors.initials: N
authors.lastname: Taniguchi
authors.forename: S
authors.initials: S
authors.lastname: Kimura
mesh_terms: D004439:Eccrine Glands / Q000648:ultrastructure*; D004848:Epithelium / Q000648:ultrastructure; D005698:Galactosylceramidase / Q000172:deficiency; D006801:Humans; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000201:enzymology / Q000473:pathology*; D008297:Male; D008854:Microscopy, Electron
chemical_list: D005698:Galactosylceramidase