title: [Diagnosis of Krabbe's leukodystrophy by transmission electron microscopy. Case report].
abstract: Krabbe's leukodystrophy is a rare hereditary disease in Mexico. For that reason we report the case of an 11-year-old child. Ultrastructural studies of sural nerve biopsy specimen are described. Myelin sheaths were uniformly thin for the fiber diameters. Cytoplasm of Schwann cells exhibited a moderate dilatation with non-membrane masses with partly curvilinear, needle-shaped structures of variable length. The inclusions often had electron-dense or electron-lucent halos. These inclusions ultrastructurally represented Krabbe's leukodystrophy, and this method aids in the diagnosis in cases that are not available for genetic studies or special laboratory techniques. In this patient, diagnosis of Krabbe's disease was delayed and established several years after the initial symptoms. Electron microscopic examination of a sural nerve provided evidence for a diagnosis of Krabbe's leukodystrophy.
authors.affiliation: Departomento de Morfología Celular y Molecular, Torre de Investigación, Instituto Nacional de Rehabilitación, México, DF. hvillegas@cnr.gob.mx
authors.forename: Hilda
authors.initials: H
authors.lastname: Villegas-Castrejón
authors.forename: Alma Delia
authors.initials: AD
authors.lastname: Hernández-Pérez
authors.forename: Sergio
authors.initials: S
authors.lastname: Peralta
authors.forename: Jesús
authors.initials: J
authors.lastname: Vázquez-Escamilla
authors.forename: Baltasar
authors.initials: B
authors.lastname: Reyes-Marín
mesh_terms: D002648:Child; D003460:Crystallization; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000473:pathology; D046529:Microscopy, Electron, Transmission; D009186:Myelin Sheath / Q000648:ultrastructure; D012583:Schwann Cells / Q000648:ultrastructure; D013497:Sural Nerve / Q000648:ultrastructure*; D013997:Time Factors