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1 Dept of Pulmonary and Intensive Care Medicine, 2 Institute of Immunology, and 3 Institute of Pathology, Otto-von-Guericke-University, Magdeburg, Germany
CORRESPONDENCE: N. Waldburg, Klinik für Pneumologie und Intersivmedizin, Universitätsklinikum Magdeburg, Leipziger Str. 44, 39112 Magdeburg, Germany. Fax: 49 3916715420. E-mail: tobias.welte@medizin.uni-magdeburg.de
Keywords: Costello, infiltrate, lipid pneumonia, lung
Received: June 27, 2003
Accepted October 6, 2003
Abstract
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.
Case history
History
The 37-yr-old male patient was born after uneventful pregnancy (birth weight 3,240 g; length 49 cm), with unremarkable family history. A gastroduodenal tube was required at the age of 9 months. Upon his last examination, at 37 yrs of age, he described exclusively progredient dyspnoea. He showed a happy outgoing nature, short stature (153 cm) and mental subnormality.
Physical findings
Characteristically, his skin was dark, with loose and redundant skin on the hands and feet. The palms were hyperkeratotic and the fingers hyperextensible with dystrophic nails. Papillomas were noted on his cheeks and fingers. His ears were low-set, protuberant and posteriorly rotated. He had curly hair, relative macroencephaly, depressed nasal bridge, pectus carinatum, long nipples and lymphedema (fig. 1
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Chest examination
Chest radiographs showed bilateral diffuse interstitial infiltration predominating in lower lung zones (fig. 2). Chest CT scans displayed bilateral, diffuse areas of ground-glass attenuation, with a basal predominance (figs 3 and 4). The bronchoalveolar lavage fluid contained increased amounts of granulocytes and CD8-positive lymphocytes.
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Histopathological examination
Histopathological examination revealed endogenous lipid pneumonia consisting of numerous intra-alveolar foamy macrophages, cholesterol clefts, surrounding giant cell reaction and hyperplasia of type II pneumocytes. Atypical collagen fibres were deposited in the pleura and septal connective tissue, particularly in the adventitia of medium-sized pulmonary veins and arteries, leading to marked thickening and compression (fig. 5). Most conspicuous was the increased deposition of atypical, fragmented, thickened, sometimes loosely organised elastic fibres in the alveolar walls (fig. 6). Continuous aspiration of lipids, virus pneumonia and malignancy were excluded.
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Since its first description in 1971, >45 cases of Costello Syndrome have been reported, suggesting that this congenital disorder is more common than previously thought. Aetiology and genetics still need to be clarified. The clinical findings of this patient are consistent with those described previously. Some patients suffered from respiratory distress, upper respiratory infection and aspiration syndrome. Most patients died at a very young age because of cardiac complications, failure to thrive or unspecified causes 2, 7, 8.
To the best of the current authors' knowledge, this is the first histologically proven affection of the lung structure in Costello Syndrome. However, abnormal elastic fibres in the skin are a common feature 9, 10. In addition, autopsy cases revealed an impaired deposition of elastic fibres in the tongue, pharynx and upper oesophagus 11. The authors believe that the respiratory problems seen in this patient result from an impaired clearance of the airspaces from lipoproteins, caused by a structural damage of the lung parenchyma. Therefore, a direct relationship to the primary disease, which could have been revealed only by histopathological examination, seems to exist. There might be a causal link between the functional deficiency of the 67-kD elastin-binding protein, as previously described for Costello Syndrome 10, the depositing of abnormal collagen and elastic fibres, and the development of endogenous lipid pneumonia.
Future examinations of patients with Costello Syndrome may reveal organ manifestations that are unknown at present but may be clinically relevant or even play a decisive role for prognosis, as in the case presented here.
References
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