Document Detail


X-linked myotubular myopathy and chylothorax.
MedLine Citation:
PMID:  18077167     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
X-linked myotubular myopathy usually presents at birth with hypotonia and respiratory distress. Phenotypic presentation, however, can be extreme variable. We report on a newborn baby, who presented with the severe form of the disease. In the second week of life, he developed a clinically relevant chylothorax, needing drainage and treatment with octreotide acetate. Pleural effusions are frequently described in patients with congenital myotonic dystrophy. To our knowledge, the association of chylothorax and X-linked myotubular myopathy has not been described to date. As chylothorax could not be attributed to any evident condition in this child, perhaps it may be added to the clinical spectrum of X-linked myotubular myopathy.
Authors:
Koenraad Smets
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-02-20
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  18     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  2008 Feb 
Date Detail:
Created Date:  2008-03-03     Completed Date:  2008-06-09     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  England    
Other Details:
Languages:  eng     Pagination:  183-4     Citation Subset:  IM    
Affiliation:
Department of Neonatology, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium. koenraad.smets@UGent.be
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MeSH Terms
Descriptor/Qualifier:
Biopsy
Chromosomes, Human, X*
Chylothorax / complications,  genetics*,  pathology
Female
Humans
Infant, Newborn
Muscle Hypotonia / complications,  genetics,  pathology
Myopathies, Structural, Congenital / complications,  genetics*,  pathology
Phenotype

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