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2016, vol. 73, iss. 2, pp. 202-204
Lung parenchima changes in neurofibromatosis type 1
aClinical Center of Serbia, Clinic for Pulmonology, Belgrade + University of Belgrade, Faculty of Medicine
bClinical Center of Serbia, Clinic for Pulmonology, Belgrade
Introduction. Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is one of the most common single-gene disorders (mutation on chromosome 17q) and usually associated with cutaneous, musculoskeletal and neurological disorders in humans. NF1 is generally complicated with one or more neurobehavioral disorders or tumors located in the peripheral nervous system such as neurofibromas, peripheral nerve sheath tumor, pheochromocytoma, etc. In the available medical literature, the thoracic manifestations of NF1 have been rarely described in these patients. There are few reports about intrathoracic neurogenic tumors, kyphoscoliosis, pneumonitis and pulmonary fibrosis in patients with NF1. Case report. A 65-year-old female was admitted to the Intensive Care Unit at the Lung Clinic of Belgrade University Clinical Center of Serbia. The patient's general condition was poor with shortness of breath and present cyanosis. At the same time, the skin changes similar to NF1 were noticed, which were additionally documented by her medical history and diagnosed as NF1. After the application of noninvasive mechanical ventilation and other emergency respiratory medicine measures, the patient soon felt better. The parenchymal changes were viewed by subsequent X-rays and CT scanning of the thorax. Conclusion. This is a case report presenting the NF1 associated with the abnormality of lung parenchyma established during diagnostic procedures at the Intensive Care Unit, Clinic of Pulmonology.
Arun, D., Gutmann, D.H. (2004) Recent advances in neurofibromatosis type 1. Current Opinion in Neurology, 17(2): 101-105
Aughenbaugh, G.L. (1984) Thoracic manifestations of neurocutaneous diseases. Radiologic clinics of North America, 22(3): 741-56
Davies, P.D. (1963) Diffuse pulmonary involvement in Von Recklinghausen's disease: a new syndrome. Thorax, 18: 198
Ferner, R., Huson, S., Thomas, N., Moss, C., Willshaw, H., Evans, D. (2006) Guidelines for the diagnosis and management of individuals with neurofibromatosis. Journal of Medical Genetics, 44(2): 81
Huson, S.M. (2008) The neurofibromatosis: Classification, clinical features and genetic counselling. in: Kaufmann D. [ed.] Neurofibromatoses: Monogr Hum Genet, Manchester, UK: Basel & Karger, 16: 1-20
Massaro, D., Katz, S. (1966) Fibrosing alveolitis: its occurrence, roentgenographic, and pathologic features in von Recklinghausen's neurofibromatosis. American review of respiratory disease, 93(6): 934-42
Nelepa, P., Wolnicka, M. (2012) Neurofibromatosis type 1 with interstitial pulmonary lesions diagnosed in an adult patient. Pneumonol Allergol Pol, 80(2): 152-7
Viskochil, D., Buchberg, A.M., Xu, G., Cawthon, R.M., Stevens, J., Wolff, R.K., Culver, M., Carey, J.C., Copeland, N.G., Jenkins, N.A. (1990) Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell, 62(1): 187-192
Wolkenstein, P., Zeller, J., Revuz, J., Ecosse, E., Leplège, A. (2001) Quality-of-Life Impairment in Neurofibromatosis Type 1. Archives of Dermatology, 137(11)


article language: English
document type: Case Report
DOI: 10.2298/VSP141007146I
published in SCIndeks: 03/02/2016
peer review method: double-blind
Creative Commons License 4.0

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