title: Muscle biopsies in children--an evaluation of histopathology and clinical value during a 5-year period.
abstract: Muscle biopsy is an important diagnostic tool in the investigation of children with neuromuscular disorders. This report presents the experience with paediatric muscle biopsies during a 5-year period at a routine pathology laboratory. A total number of 58 cases were included, and indications, microscopical findings, and final histopathological diagnoses were recorded. A total of 21 biopsies were from females (36%) and 37 biopsies from males (64%); 53% of the cases were from children under 2 years of age. Major pathological findings were found in 30% comprising muscular dystrophy, neurogenic atrophy, and congenital and metabolic disorders, even in cases with vague clinical manifestations. These findings confirm the high diagnostic yield of muscle biopsies, especially as new techniques have been introduced such as immunohistochemistry. Muscle pathology is difficult and emphasizes the importance of this service being undertaken by specialized laboratories with an experienced staff. Microscopical examination of muscle biopsies should be based on adequate clinical information, demonstrating the necessity of close contact between pathologists and referring physicians.
authors.affiliation: Department of Laboratory Medicine, Children's and Women's Health, Faculty of Medicine, Norwegian University of Science and Technology (NTNU), Trondheim University Hospital, Trondheim, Norway.
authors.forename: Marius Kurås
authors.initials: MK
authors.lastname: Skram
authors.forename: Sasha
authors.initials: S
authors.lastname: Gulati
authors.forename: Erik
authors.initials: E
authors.lastname: Larsson
authors.forename: Sigurd
authors.initials: S
authors.lastname: Lindal
authors.forename: Sverre Helge
authors.initials: SH
authors.lastname: Torp
mesh_terms: D000293:Adolescent; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology*; D009468:Neuromuscular Diseases / Q000175:diagnosis* / Q000473:pathology