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Published on: February 8, 2019

Childhood macrophagic myofasciitis-consanguinity and clinicopathological features

Yoram Nevo1, Miriam Kutai, Joseph Jossiphov

  • 1The 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

Neuromuscular Disorders : NMD
|March 17, 2004
PubMed

Insights

Macrophagic myofasciitis, typically seen in adults, was identified in six Arab Muslim children. This study highlights potential genetic factors influencing its prevalence and presentation in pediatric cases.

Area of Science:

  • Pediatric Neurology
  • Muscle Pathology
  • Immunology

Background:

  • Macrophagic myofasciitis (MMF) is a rare inflammatory myopathy predominantly diagnosed in adults.
  • Its occurrence in children, particularly those of specific ethnic backgrounds, is infrequently reported.

Purpose of the Study:

  • To describe the clinical and pathological features of macrophagic myofasciitis in a cohort of six children.
  • To investigate potential associations between MMF, genetic predisposition, and clinical manifestations in pediatric patients.

Main Methods:

  • Histopathological examination of muscle and fascia biopsies.
  • Immunohistochemical staining for macrophage markers (CD68).
  • Electron microscopy and energy-dispersive X-ray microanalysis for crystalline structures.

Main Results:

  • Six children of Arab Muslim origin presented with hypotonia and developmental/motor delay.
  • Biopsies revealed massive macrophage infiltration in fascia, positive for PAS and CD68.
  • Analysis identified aluminum-containing crystalline structures within macrophages in one case.
  • Prednisone treatment showed no clinical improvement in two affected children.

Conclusions:

  • Macrophagic myofasciitis can occur in children, with distinct clinical presentations.
  • Consanguinity in families suggests a potential genetic predisposition.
  • No clear link was established between the pathological entity of MMF and the observed clinical symptoms in childhood.

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