Pulmonary infiltrates in Costello Syndrome

• Published in: The European respiratory journal Vol. 23; no. 5; pp. 783 - 785
• Main Authors: Waldburg, N, Buehling, F, Evert, M, Burkhardt, O, Welte, T
• Format: Journal Article
• Language: English
• Published: Leeds Eur Respiratory Soc 01.05.2004; Maney
• Subjects: Abnormalities, Multiple; Adult; Biological and medical sciences; Collagen - metabolism; Complex syndromes; Elastic Tissue - pathology; Humans; Lung - metabolism; Lung - pathology; Lung Diseases - complications; Lung Diseases - diagnostic imaging; Lung Diseases - metabolism; Lung Diseases - pathology; Male; Medical genetics; Medical sciences; Pneumology; Pneumonia, Lipid - complications; Radiography, Thoracic; Syndrome; Tomography, X-Ray Computed; Lung disease; lipid pneumonia. lung; Skin disease; Pneumonia; Respiratory disease; Stomatology; Costello; Cardiovascular disease; Lipids; Respiratory system; Infiltrate; Malformation; Costello syndrome; Complex syndrome; Pneumology
• ISSN: 0903-1936; 1399-3003
• DOI: 10.1183/09031936.04.00073704

This paper reports on a patient with diffuse pulmonary infiltrates directly related to Costello Syndrome. This congenital disorder is characterised by multiple congenital abnormalities, such as psychomotor retardation, short stature, redundant skin, papillomata, curly hair, relative macroencephaly, distinctive face and various defects of internal organs. This study is the first to document the histopathological findings in the lungs. Most conspicuous was the depositing of abnormal collagen and elastic fibres and the development of endogenous lipid pneumonia.