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Macrophagic Myofasciitis: A Report of Two South Indian Infants

Vykuntaraju K Gowda1, Varunvenkat M Srinivasan1, Yasha Muthane2

  • 1Department of Pediatric Neurology, Indira Gandhi institute of Child Health, Bangalore, Karnataka, India.

Journal of Pediatric Neurosciences
|February 3, 2021
PubMed

Insights

Macrophagic myofasciitis, a rare inflammatory myopathy, was diagnosed in two infants presenting with severe floppiness and hypotonia. This condition should be considered in infants with lower motor neuron signs, alongside inherited causes.

Area of Science:

  • Neurology
  • Pediatrics
  • Pathology

Background:

  • Macrophagic myofasciitis is a rare inflammatory myopathy.
  • It is characterized by peri-fascicular macrophage infiltration without muscle necrosis.

Observation:

  • Two infants presented with early infancy symptoms: a 5-month-old girl with neck control loss and floppiness, and a 17-day-old boy with poor feeding, tachypnea, and floppiness.
  • Both infants exhibited generalized hypotonia, absent deep tendon reflexes, and significantly reduced motor power.
  • Routine investigations, including serum Creatine phosphokinase, were normal in both cases.

Findings:

  • Muscle biopsy confirmed macrophagic myofasciitis in both infants.
  • The clinical presentation included significant muscle weakness and hypotonia, indicative of a lower motor neuron type presentation.

Implications:

  • Macrophagic myofasciitis should be considered in the differential diagnosis of floppy infants presenting with lower motor neuron signs.
  • Early diagnosis and consideration of this rare myopathy are crucial for appropriate management in affected infants.

Keywords:
Floppy infantIndiamacrophagic myofasciitismuscle biopsy

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