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Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: Unusual manifestations of Menkes disease
Author(s) -
Grange Dorothy K.,
Kaler Stephen G.,
Albers Gary M.,
Petterchak James A.,
Thorpe Connie M.,
deMello Daphne E.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31001
Subject(s) - medicine , menkes disease , autopsy , pathology , elastin , lysyl oxidase , aspiration pneumonia , cardiology , pneumonia , copper metabolism , chemistry , organic chemistry , copper , extracellular matrix , biology , microbiology and biotechnology
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. © 2005 Wiley‐Liss, Inc.