Childhood macrophagic myofasciitis: A series from the Indian subcontinent

Aanchal Kakkar1, Madhu Rajeshwari1, Aasma Nalwa1

  • 1Department of Pathology, All India Institute of Medical Sciences, New Delhi, 110029, India.

Muscle & Nerve
|November 19, 2016
PubMed
Abstract

Insights

Macrophagic myofasciitis (MMF) is a rare pediatric inflammatory myopathy. This study identifies 6 cases in Indian children presenting with hypotonia and motor delay, associated with hepatitis B vaccination.

Area of Science:

  • Neurology
  • Pediatrics
  • Pathology

Background:

  • Macrophagic myofasciitis (MMF) is a rare inflammatory myopathy primarily reported in European adults.
  • Occasional childhood cases have been documented, but pediatric MMF remains infrequently described.

Purpose of the Study:

  • To report a series of pediatric Macrophagic myofasciitis (MMF) cases from the Indian subcontinent.
  • To describe the clinical, histopathological, and ultrastructural features of these cases.

Main Methods:

  • Retrospective review of 6 pediatric patients diagnosed with MMF from muscle biopsies.
  • Evaluation included hematoxylin-eosin staining, histochemistry, immunohistochemistry, and electron microscopy.
  • Clinical data, creatine kinase levels, and electromyography results were analyzed.

Main Results:

  • Six pediatric MMF cases were identified among 2,218 muscle biopsies.
  • All patients presented with hypotonia and/or motor delay, with a mean age at diagnosis of 16.2 months.
  • Histopathology showed infiltration by periodic acid-Schiff stain-positive histiocytes with needle-shaped crystals on ultrastructural examination; all patients had a history of hepatitis B vaccination.

Conclusions:

  • Macrophagic myofasciitis (MMF) is a rare inflammatory myopathy that should be considered in the differential diagnosis of congenital myopathies in children.
  • This study expands the geographic reporting of pediatric MMF to the Indian subcontinent.
  • The findings highlight the association with hepatitis B vaccination in pediatric MMF cases.

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