title: Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes disease.
abstract: 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.affiliation: Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA. grange_d@kids.wustl.edu
authors.forename: Dorothy K
authors.initials: DK
authors.lastname: Grange
authors.forename: Stephen G
authors.initials: SG
authors.lastname: Kaler
authors.forename: Gary M
authors.initials: GM
authors.lastname: Albers
authors.forename: James A
authors.initials: JA
authors.lastname: Petterchak
authors.forename: Connie M
authors.initials: CM
authors.lastname: Thorpe
authors.forename: Daphne E
authors.initials: DE
authors.lastname: DeMello
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D027682:Cation Transport Proteins / Q000235:genetics; D000073840:Copper-Transporting ATPases; D004646:Emphysema / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*; D020125:Mutation, Missense; D011651:Pulmonary Artery / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography; D011993:Recombinant Fusion Proteins / Q000235:genetics
chemical_list: D027682:Cation Transport Proteins; D011993:Recombinant Fusion Proteins; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases