Coexistence of central nucleus, cores, and rods: Diagnostic relevance.

Abstract:

BACKGROUND:Congenital myopathies (CMs) though considered distinct disorders, simultaneous occurrence of central nucleus, nemaline rods, and cores in the same biopsy are scarcely reported. OBJECTIVE:A retrospective reassessment of cases diagnosed as CMs to look for multiple pathologies missed, if any, during the initial diagnosis. MATERIALS AND METHODS:Enzyme histochemical, and immunohistochemical-stained slides from 125 cases diagnosed as congenital myopathy were reassessed. RESULTS:The study revealed 15 cases (12%) of congenital myopathy with more than one morphological feature. Central nucleus with cores (n = 11), central nucleus, nemaline rods and cores (n = 3), and nemaline rods with cores (n = 1). 4/11 cases were diagnosed as centronuclear myopathy (CNM) in the first instance; in addition, cores were revealed on reassessment. DISCUSSION:The prevalence of CMs of all neuromuscular disorders is approximately 6 in 100,000 live births, with regional variations. Three main defined CMs include centro nuclear myopathy (CNM), nemaline rod myopathy (NRM), and central core disease (CCD). However, they are more diverse with overlapping clinical and histopathological features, thus broadening the spectra within each category of congenital myopathy. CONCLUSION:Identification of cases with overlap of pathological features has diagnostic relevance.

journal_name

Ann Indian Acad Neurol

authors

Dhinakaran S,Kumar RS,Thakkar R,Narayanappa G

doi

10.4103/0972-2327.176861

subject

Has Abstract

pub_date

2016-04-01 00:00:00

pages

201-4

issue

2

eissn

0972-2327

issn

1998-3549

pii

AIAN-19-201

journal_volume

19

pub_type

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