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Annals of Indian Academy of Neurology
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ORIGINAL ARTICLE
Year : 2016  |  Volume : 19  |  Issue : 3  |  Page : 356-359

Congenital muscular dystrophy with inflammation: Diagnostic considerations


1 Department of Pathology, Guntur Medical College, Guntur, Andhra Pradesh, India
2 Department of Neurology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India
3 Department of Paediatric Neurology, Rainbow Hospitals, Hyderabad, Telangana, India
4 Department of Pathology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India

Correspondence Address:
Sundaram Challa
Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad - 500 082, Telangana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.186814

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Background and Purpose: 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 α 2 deficiency on immunohistochemistry (IHC). Material and 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 α 2. Muscle biopsies with inflammatory infiltrate were correlated with laminin α 2 deficiency. Results: There were 65 patients of CMD, with inflammation on muscle biopsy in 16. IHC with laminin α 2 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 α 2 deficient CMD should be considered in patients of muscular dystrophy with inflammation, in children with hypotonia/delayed motor milestones.


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