title: Congenital muscular dystrophy with inflammation: Diagnostic considerations.
abstract: OBJECTIVE
  Muscle biopsy features of congenital muscular dystrophies (CMD) vary from usual dystrophic picture to normal or nonspecific myopathic picture or prominent fibrosis or striking inflammatory infiltrate, which may lead to diagnostic errors. A series of patients of CMD with significant inflammatory infiltrates on muscle biopsy were correlated with laminin α2 deficiency on immunohistochemistry (IHC).
  
  
  METHODS
  Cryostat sections of muscle biopsies from the patients diagnosed as CMD on clinical and muscle biopsy features from 1996 to 2014 were reviewed with hematoxylin and eosin(H&E), enzyme and immunohistochemistry (IHC) with laminin α2. Muscle biopsies with inflammatory infiltrate were correlated with laminin α2 deficiency.
  
  
  RESULTS
  There were 65 patients of CMD, with inflammation on muscle biopsy in 16. IHC with laminin α2 was available in nine patients, of which six showed complete absence along sarcolemma (five presented with floppy infant syndrome and one with delayed motor milestones) and three showed discontinuous, and less intense staining.
  
  
  CONCLUSIONS
  CMD show variable degrees of inflammation on muscle biopsy. A diagnosis of laminin α2 deficient CMD should be considered in patients of muscular dystrophy with inflammation, in children with hypotonia/delayed motor milestones.
authors: Department of Pathology, Guntur Medical College, Guntur, Andhra Pradesh, India.
authors: Kaumudi
authors: K
authors: Konkay
authors: Department of Neurology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.
authors: Meena Angamuthu
authors: MA
authors: Kannan
authors: Department of Paediatric Neurology, Rainbow Hospitals, Hyderabad, Telangana, India.
authors: Lokesh
authors: L
authors: Lingappa
authors: Department of Pathology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.
authors: Megha S
authors: MS
authors: Uppin
authors: Department of Pathology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.
authors: Sundaram
authors: S
authors: Challa
keywords: Congenital muscular dystrophies (CMDs); inflammation; laminin α2 (LAMA2); merosin