Childhood macrophagic myofasciitis—consanguinity and clinicopathological features Yoram Nevo a, * , Miriam Kutai b , Joseph Jossiphov c , Amir Livne d , Zvi Neeman e , Talmon Arad f , Ronit Popovitz-Biro g , Jacob Atsmon h , Yehuda Shapira d , Dov Soffer e a 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 b Pediatric Neurology Service, Haemek Hospital, Afula, Israel c Department of Pathology, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel d Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel e Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel f Department of Structural Biology, The Weizmann Institute of Science, Rehovot, Israel g Department of Material and Interfaces, The Weizmann Institute of Science, Rehovot, Israel h Clinical Pharmacology Unit, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel Received 24 July 2003; received in revised form 16 December 2003; accepted 22 December 2003 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. q 2004 Elsevier B.V. All rights reserved. Keywords: Macrophagic myofasciitis; Immunizations; Muscle biopsy; Children 1. Introduction The recent development of new effective vaccines and the broadening of vaccination programs nurture the expectation of enhancing public health by eliminating common infectious diseases [1]. However, even though immunizations have an extraordinary safety record overall, the wide distribution of new vaccinations has raised concern over additional new side effects [2]. A new clinical–pathological entity, macrophagic myo- fasciitis, was initially and mainly reported in France [3]. Subsequently, fewer cases have been described in other parts of the world, including Spain, Germany and the USA [4–6]. The clinical features of these adult patients varied. Most patients underwent biopsy due to myalgia, arthralgia, muscle weakness, asthenia or fever with the presumptive diagnosis of polymyositis or polymyalgia rheumatica [3]. In isolated cases, macrophagic myofasciitis was associated with renal fibromuscular dysplasia [7] or inclusion body myositis [8], and a few patients had an associated demyelinating central nervous system disorder [9]. Muscle pathology in all these cases was characterized by a pattern of infiltration of the epimysium, perimysium and perifasci- cular endomysium by periodic-acid-Schiff (PAS) positive cells of the macrophage lineage. It has been recently shown that macrophagic myofasciitis represents an unusual local reaction to intramuscular Neuromuscular Disorders 14 (2004) 246–252 www.elsevier.com/locate/nmd 0960-8966/$ - see front matter q 2004 Elsevier B.V. All rights reserved. doi:10.1016/j.nmd.2003.12.005 * Corresponding author. Tel.: þ 972-3-6973975; fax: þ 972-3-6973990. E-mail address: nevo@tasmc.health.gov.il (Y. Nevo).