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2016, vol. 73, iss. 2, pp. 202-204
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Lung parenchima changes in neurofibromatosis type 1
Promene parenhima pluća kod neurofibromatoze tipa 1
aClinical Center of Serbia, Clinic for Pulmonology, Belgrade + University of Belgrade, Faculty of Medicine bClinical Center of Serbia, Clinic for Pulmonology, Belgrade
email: j.stanimirovic@hotmail.com
Abstract
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.
Sažetak
Uvod. Neurofibromatoza tipa 1 (NF1), takođe poznata kao fon Recklinghauzenova bolest, jedan od najčešćih poremećaja pojedinačnih gena (mutacija na hromozomu 17q), obično je povezana sa kožnim, mišićnoskeletnim i neurološkim poremećajima kod ljudi. Takođe, NF1 obično je povezana sa jednim ili više neurobihejvioralnih poremećaja ili tumora lociranih na perifernom nervnom sistemu, kao što su neurofibromi, plašt tumori perifernih nerava, feohromocitom, itd. Kod istih bolesnika torakalne manifestacije NF1 opisane su retko u sadašnjoj medicinskoj literaturi. Postoji nekoliko izveštaja o intratorakalnim neurogenskim tumorima, kifoskoliozi, pneumonitisu i plućnoj fibrozi kod bolesnika sa NF1. Prikaz bolesnika. Bolesnica, stara 65 godina, na prijemu u Jedinicu intenzivne nege Klinike za pulmologiju Kliničkog centra Srbije bila je u lošem opštem stanju, kratakog daha i sa prisutnom cijanozom. U tom trenutku primećene su i promene na koži. Nakon dobijanja informacije kao i podataka iz medicinske istorije bolesnice, utvrđeno je da je u pitanju NF1. Posle primene neinvazivne mehaničke ventilacije i drugih mera hitne respiratorne medicine, bolesnica se ubrzo osećala bolje. Na kasnije učinjenom RTG snimku i CT skenu grudnog koša uočene su promene parenhima. Zaključak. U ovom prikazu opisana je NF1 povezana sa abnormalnostima plućnog parenhima, utvrđena tokom dijagnostičkih procedura u Jedinici intenzivne nege Klinike za pulmologiju.
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