title: Childhood macrophagic myofasciitis-consanguinity and clinicopathological features.
abstract: Macrophagic myofasciitis has been almost exclusively detected in adults only. We describe six children of Arab Moslem origin with this disorder. Three presented with hypotonia, developmental delay and seizures and were evaluated for a mitochondrial disorder. The other three children had hypotonia and predominantly motor delay. Five of the six families were consanguineous. A massive collection of macrophages was present in the fascia and adjacent epimysium in all biopsies. The macrophages were periodic-acid-Schiff positive and immunoreactive for CD68. One biopsy which was evaluated by electron microscopy and energy-dispersive X-ray microanalysis showed crystalline structures containing aluminum in macrophages. Two children with motor delay and hypotonia were treated with oral prednisone for 3 months with no clinical improvement. Genetic predisposition probably accounts for the variability in the prevalence of macrophagic myofasciitis in different populations. At least in childhood, there seems to be no connection between macrophagic myofasciitis as a pathological entity and the clinical symptoms and signs.
authors.affiliation: The Institute for Child Development and Pediatric Neurology Unit, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Beit Habriut Strauss, 14 Balfour Street, Tel Aviv 65211, Israel. nevo@tasmc.health.gov.il
authors.forename: Yoram
authors.initials: Y
authors.lastname: Nevo
authors.forename: Miriam
authors.initials: M
authors.lastname: Kutai
authors.forename: Joseph
authors.initials: J
authors.lastname: Jossiphov
authors.forename: Amir
authors.initials: A
authors.lastname: Livne
authors.forename: Zvi
authors.initials: Z
authors.lastname: Neeman
authors.forename: Talmon
authors.initials: T
authors.lastname: Arad
authors.forename: Ronit
authors.initials: R
authors.lastname: Popovitz-Biro
authors.forename: Jacob
authors.initials: J
authors.lastname: Atsmon
authors.forename: Yehuda
authors.initials: Y
authors.lastname: Shapira
authors.forename: Dov
authors.initials: D
authors.lastname: Soffer
mesh_terms: D000535:Aluminum / Q000378:metabolism; D015703:Antigens, CD / Q000378:metabolism; D015214:Antigens, Differentiation, Myelomonocytic / Q000378:metabolism; D001706:Biopsy / Q000379:methods; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D007223:Infant; D008264:Macrophages / Q000737:chemistry / Q000473:pathology* / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron / Q000379:methods; D009123:Muscle Hypotonia / Q000209:etiology / Q000473:pathology; D018908:Muscle Weakness / Q000209:etiology; D018482:Muscle, Skeletal / Q000737:chemistry / Q000473:pathology* / Q000503:physiopathology / Q000648:ultrastructure; D009220:Myositis / Q000150:complications / Q000473:pathology*; D018979:Myositis, Inclusion Body / Q000209:etiology* / Q000378:metabolism / Q000473:pathology; D014611:Vaccination / Q000009:adverse effects; D000097382:CD68 Molecule
chemical_list: D000535:Aluminum; D015703:Antigens, CD; D015214:Antigens, Differentiation, Myelomonocytic; C067980:CD68 antigen, human; D000097382:CD68 Molecule