Document Detail


The myopathology of floppy and hypotonic infants in Singapore.
MedLine Citation:
PMID:  14555385     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
AIMS: This study attempts to determine the type and relative frequency of muscle diseases contributing to floppy and hypotonic infants in Singapore. METHODS: Eighty consecutive muscle biopsies in the Department of Pathology, National University of Singapore, in the period 1978-2000, in which a clinical diagnosis of floppy or hypotonic infant was made, were reviewed. RESULTS: The commonest cause of severe hypotonia in infancy was spinal muscular atrophy, which accounted for 33% of cases followed by congenital muscular dystrophy (13%). Eight cases (10%) of infantile type II glycogenosis (Pompe's disease) were encountered. There were seven cases of congenital myopathy, of which four were centronuclear myopathy, and one each of central core myopathy, nemaline myopathy and congenital fibre type disproportion. One case of centronuclear myopathy was associated with type I fibre smallness. Type II atrophy, which is generally considered a non-specific change, was encountered in five cases. Of interest is the relatively large number of muscle biopsies (29%) in which no significant pathological features were encountered at the light microscopic, histochemical as well as ultra-structural level. CONCLUSIONS: The study has revealed a great variety of pathology affecting the muscle of children presenting as floppy infants or with hypotonia. The muscle diseases included spinal muscular atrophy, congenital muscular dystrophies, congenital myopathies and metabolic myopathies. However, 23 (29%) cases showed no significant pathology. For this group of floppy and hypotonic infants further studies are needed.
Authors:
Mapalagama K Premasiri; Yoke-Sun Lee
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pathology     Volume:  35     ISSN:  0031-3025     ISO Abbreviation:  Pathology     Publication Date:  2003 Oct 
Date Detail:
Created Date:  2003-10-13     Completed Date:  2004-01-29     Revised Date:  2006-10-31    
Medline Journal Info:
Nlm Unique ID:  0175411     Medline TA:  Pathology     Country:  England    
Other Details:
Languages:  eng     Pagination:  409-13     Citation Subset:  IM    
Affiliation:
Department of Pathology, National University of Singapore.
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MeSH Terms
Descriptor/Qualifier:
China / ethnology
Female
Humans
India / ethnology
Infant
Infant, Newborn
Malaysia / ethnology
Male
Muscle Hypotonia / congenital,  ethnology,  pathology*
Muscle, Skeletal / metabolism,  pathology*
Muscular Diseases / congenital,  ethnology,  pathology*
Sex Distribution
Singapore / epidemiology
Spinal Muscular Atrophies of Childhood / ethnology,  metabolism,  pathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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