title: Sweat gland vacuoles in Unverricht-Lundborg disease: a clue to diagnosis?
abstract: There has been no reported pathologic abnormality outside the central nervous system in patients with Unverricht-Lundborg disease (ULD). We report membrane-bound vacuoles with clear contents in eccrine clear cells and dark cells in five of seven patients with ULD, as well as in one clinically unaffected sibling. Vacuoles were not seen in the biopsies of two patients and of eight controls with Lafora's disease. These findings, though not entirely specific, suggest that skin biopsy may serve as a diagnostic aid to give supportive evidence for ULD.
authors.affiliation: Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
authors.forename: J
authors.initials: J
authors.lastname: Cochius
authors.forename: S
authors.initials: S
authors.lastname: Carpenter
authors.forename: E
authors.initials: E
authors.lastname: Andermann
authors.forename: G
authors.initials: G
authors.lastname: Rouleau
authors.forename: U
authors.initials: U
authors.lastname: Nousiainen
authors.forename: R
authors.initials: R
authors.lastname: Kalviainen
authors.forename: K
authors.initials: K
authors.lastname: Farrell
authors.forename: F
authors.initials: F
authors.lastname: Andermann
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001706:Biopsy; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D003241:Consanguinity; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D008040:Genetic Linkage; D006801:Humans; D008854:Microscopy, Electron; D011110:Polymorphism, Genetic; D012016:Reference Values; D012091:Repetitive Sequences, Nucleic Acid; D012867:Skin / Q000473:pathology; D013545:Sweat Glands / Q000473:pathology / Q000648:ultrastructure*; D014617:Vacuoles / Q000473:pathology* / Q000648:ultrastructure