Back to Search
Start Over
Congenital muscular dystrophy with inflammation: Diagnostic considerations
- Source :
- Annals of Indian Academy of Neurology, Annals of Indian Academy of Neurology, Vol 19, Iss 3, Pp 356-359 (2016)
- Publication Year :
- 2016
- Publisher :
- Medknow Publications & Media Pvt Ltd, 2016.
-
Abstract
- 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.
- Subjects :
- Pathology
medicine.medical_specialty
laminin α2 (LAMA2)
H&E stain
lcsh:RC346-429
Laminin
medicine
merosin
Muscular dystrophy
lcsh:Neurology. Diseases of the nervous system
Muscle biopsy
Sarcolemma
biology
medicine.diagnostic_test
business.industry
medicine.disease
Hypotonia
Congenital muscular dystrophies (CMDs)
inflammation
biology.protein
Congenital muscular dystrophy
Immunohistochemistry
Original Article
Neurology (clinical)
medicine.symptom
business
Subjects
Details
- Language :
- English
- ISSN :
- 19983549 and 09722327
- Volume :
- 19
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Annals of Indian Academy of Neurology
- Accession number :
- edsair.doi.dedup.....64a7f21309be48b9eb36c6ba25962746