Document Detail

Diaphragmatic paralysis due to spinal muscular atrophy. An unrecognised cause of respiratory failure in infancy?
MedLine Citation:
PMID:  3977387     Owner:  NLM     Status:  MEDLINE    
An unusual form of spinal muscular atrophy presenting with respiratory failure was observed in four infants from two families. In one, whose death was attributed to pneumonia, the diagnosis was inferred retrospectively after two siblings died from an identical illness and were shown to have diaphragmatic paralysis and the typical electrophysiological and histological features of spinal muscular atrophy. Other signs of skeletal muscular weakness were absent or inconspicuous. The fourth, unrelated infant presented in an identical way but has survived for over a year on a ventilator. Two months after the onset of respiratory paralysis, more extensive skeletal muscular weakness was seen. Other infants, dying of unexplained respiratory illness, may have this disorder and some may be included in the miscellany of disorders that constitute the sudden infant death syndrome.
R C McWilliam; D Gardner-Medwin; D Doyle; J B Stephenson
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Archives of disease in childhood     Volume:  60     ISSN:  1468-2044     ISO Abbreviation:  Arch. Dis. Child.     Publication Date:  1985 Feb 
Date Detail:
Created Date:  1985-04-04     Completed Date:  1985-04-04     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0372434     Medline TA:  Arch Dis Child     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  145-9     Citation Subset:  AIM; IM    
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MeSH Terms
Infant, Newborn
Muscles / pathology
Muscular Atrophy / complications*,  pathology
Respiratory Paralysis / etiology*,  pathology
Spinal Cord / pathology
Sudden Infant Death / etiology

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

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