Premium
Childhood macrophagic myofasciitis: A series from the Indian subcontinent
Author(s) -
Kakkar Aanchal,
Rajeshwari Madhu,
Nalwa Aasma,
Suri Vaishali,
Sarkar Chitra,
Chakrabarty Biswaroop,
Gulati Sheffali,
Sharma Mehar C.
Publication year - 2017
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25467
Subject(s) - medicine , pathology , muscle biopsy , histopathology , h&e stain , differential diagnosis , histiocyte , biopsy , muscular dystrophy , indian subcontinent , immunohistochemistry , ancient history , history
Macrophagic myofasciitis (MMF) is a rare disorder, reported mainly in European adults, with occasional childhood cases. We report a series of 6 patients with pediatric MMF from the Indian subcontinent. Methods Clinical details, creatine kinase levels, and results of electromyography are described for patients diagnosed with MMF. Fresh‐frozen and formalin‐fixed muscle biopsies were evaluated by hematoxylin‐eosin staining, histochemistry, immunohistochemistry, and electron microscopy. Results Six of 2,218 muscle biopsies were diagnosed as MMF; patient charts were reviewed. The 6 patients were all children; all presented with hypotonia and/or motor delay. Mean age at diagnosis was 16.2 months. There were 4 boys and 2 girls. All had a history of hepatitis B vaccination. Histopathology revealed infiltration by sheets of large periodic acid–Schiff stain‐positive histiocytes. Ultrastructural examination demonstrated needle‐shaped crystals within histiocytes. One patient had a co‐existent neuromuscular disorder, merosin‐deficient congenital muscular dystrophy. Conclusions MMF is a rare inflammatory myopathy that should be considered in the differential diagnosis of congenital myopathies in children. Muscle Nerve 56 : 71–77, 2017.