[Respiratory manifestations in von Recklinghausen's disease].
The neurofibromatosis type I (NF I, von Recklinghausen's disease) is an autosomal dominant neurocutaneous disorder with systemic involvement. The respiratory manifestations include: chest wall deformities, upper airway obstruction by neurofibromas, parenchymal neurogenic tumours, pulmonary fibrosis, cystic lung disease, primary pulmonary hypertension, central hypoventilation, diaphragm paralysis. We present 4 cases of NF I associated with chronic respiratory diseases. The common feature is the presence of severe chest deformities. The bullous emphysema was present in 2 of them. All 4 patients suffered from depressive syndrome with neuroleptic use.
Lovin
Sînziana
S
Clinica a VI-a Medicală, Spitalul Clinic de Recuperare Iaşi. sinziana_lovin@yahoo.com
Veale
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D000328:Adult; D000368:Aged; D005260:Female; D005602:France; D006801:Humans; D008173:Lung Diseases, Obstructive / Q000000981:diagnostic imaging / Q000209:etiology; D008175:Lung Neoplasms / Q000000981:diagnostic imaging / Q000209:etiology; D008297:Male; D008875:Middle Aged; D009455:Neurofibroma / Q000000981:diagnostic imaging / Q000209:etiology; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis*; D011656:Pulmonary Emphysema / Q000000981:diagnostic imaging / Q000209:etiology; D011658:Pulmonary Fibrosis / Q000000981:diagnostic imaging / Q000209:etiology; D011859:Radiography; D035441:Thoracic Wall / Q000002:abnormalities*