Macrophagic myofasciitis (MMF) is a rare, seemingly emerging entity among adult patients in France. We encountered two children with the first two cases of MMF in North America. A 5-year-old male with chronic intestinal pseudo-obstruction required nighttime parenteral nutrition. Abnormal pupillary reflexes and urinary retention suggested a diffuse dysautonomia, which prompted a neurological diagnostic work-up. A 3-year-old child had developmental delay and hypotonia. Both children received age-appropriate immunizations. Quadriceps muscle biopsy from each child showed the typical patchy, cohesive centripetal infiltration of α-1-antitrypsin+, α-1-antichymotrypsin+, CD68+, PAS+, CD1a-, S-100-, factor XIII- granular macrophages with adjacent myofiber atrophy, dilated blood vessels, and mild endomysial and perimysial fibrosis. No myonecrosis was observed and no discrete granulomas were seen. A single aluminum peak was demonstrated on energy dispersive X-ray microanalysis. The etiology of the clinical symptoms in these cases and in cases reported as MMF remains intriguing. Despite numerous stains to demonstrate organisms, most infectious causes leading to macrophage activation were ruled out. These cases are being reported to increase awareness of this condition and to encourage a systematic epidemiologic and clinicopathologic study in North America.
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
- Pathology and Forensic Medicine
- Inflammatory myopathy