Document Detail


Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes disease.
MedLine Citation:
PMID:  16278898     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Menkes disease is an X-linked recessive disorder of copper transport characterized by neurological deterioration, connective tissue, and vascular defects, abnormal hair, and death in early childhood. We report on a patient with Menkes disease in whom severe diffuse emphysema caused respiratory failure and death at 14 months of age. He had severe growth and developmental delays and other typical clinical manifestations of Menkes disease. He developed respiratory problems requiring continuous supplemental oxygen and a progressively enlarging soft tissue mass appeared on the neck. Imaging studies revealed cystic spaces in multiple lobes of the lung consistent with bullous emphysema. The neck mass was determined to be an internal jugular venous aneurysm. At autopsy, extensive emphysematous change was evident. Post-mortem barium injections of the pulmonary arterial system revealed marked dilatation and tortuosity of the preacinar pulmonary arteries and reduced numbers of intra-acinar arteries. Severe emphysema, presumably caused by abnormal elastin due to deficiency of the copper-dependent enzyme lysyl oxidase, may represent an underestimated clinical complication of Menkes disease and should be considered in the differential diagnosis of chronic respiratory disease in these patients.
Authors:
Dorothy K Grange; Stephen G Kaler; Gary M Albers; James A Petterchak; Connie M Thorpe; Daphne E DeMello
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  139A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2005 Dec 
Date Detail:
Created Date:  2005-11-28     Completed Date:  2006-04-24     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  151-5     Citation Subset:  IM    
Copyright Information:
Copyright 2005 Wiley-Liss, Inc.
Affiliation:
Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA. grange_d@kids.wustl.edu
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MeSH Terms
Descriptor/Qualifier:
Adenosine Triphosphatases / genetics
Cation Transport Proteins / genetics
Emphysema / genetics,  physiopathology*,  radiography
Humans
Infant
Infant, Newborn
Male
Menkes Kinky Hair Syndrome / genetics,  physiopathology*,  radiography
Mutation, Missense
Pulmonary Artery / abnormalities*,  radiography
Recombinant Fusion Proteins / genetics
Chemical
Reg. No./Substance:
0/Cation Transport Proteins; 0/Recombinant Fusion Proteins; EC 3.6.1.-/Adenosine Triphosphatases; EC 3.6.3.4/ATP7A protein, human

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


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