Günseli BALCI, Emel TELLİOĞLU, Özlem ŞENGÖREN, Rıfat ÖZACAR

Mediastinal kitle nedeniyle solunum yetmezliği gelişen nörofibromatozis tip 1 olgusu

Nörofibromatozis, nörokuta nöz sendromlar içinde en sık görüleni olup 1/2000- 1/3000 doğumda bir sıklıkta ortaya çıkar. Doğuştan mental retarde olan 25 yaşında kadın hasta, akciğer radyogram ında mediastinal kitle lezyonu ve arteriyel kan gazında hipoksi saptanması üzerine hastaneye yatırıldı. İleri derecede dispne yakınması nedeniyle palyatif toraks radyoterapisi uygulandı. Hastanın toraks duvarındaki multipl nodülopapüller cilt lezyonlarından ve mediastinal kitle lezyonundan biyopsi yapıldı. Her iki biyopsi sonucu "nörofibrom"la uyumlu bulundu. Olgumuzda klinik ve histolojik olarak benign bir hastalık olan nörofibromatozis tip 1'e (Von Recklinghausen hastalığı) bağlı mediastinal kitle bulundu. Benign yapıda olmasına karşın mediastinal kitlenin yaptığı basıya bağlı solunum yetmezliği gelişen hasta, nörofibromatozis konusundaki literatür bilgileri eşliğinde sunuldu.

Neurofibromatosis type 1 case with respiratory insufficiency due to mediastinal mass

Neurofibromatosis is the most common one among neurocutaneous syndromes; its incidence is 1/2000-1/3000. A congenitally mental retarded 25-years-old female patient was hospitalized due to a mediastinal mass lesion in chest radiogram and hypoxia in her arterial blood gasses. Paliative radiotherapy was performed due to serious dyspnea. Biopsies taken from the multiple nodulopapullar skin lesions on her thoracic wall and from her mediastinal mass lesion were compatible with "neurofibroma". She was diagnosed to have the benign disease neurofibromatosis type 1 (Von Recklinghausen disease) and this was confirmed clinically and histologically. The patient with respiratory insufficiency due to pressure of mediastinal mass is presented with information from literature.

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1. Azarov KS, P earl RH, Zurher R, Edwards FH, Cohen AJ. Primary mediastinal masses. J Thorac Cardiovasc Surg. 1993; 106: 67-72.
2. Davis RD, Oldham HN, Sabistan DC. Primary cysts and neoplasms of the mediastinum: recent changes in clinical presentation, methods of diagnosis, management and results. Ann Thorac Surg 1987; 44: 229- 37.
3. Wychulis AR, Payne WS, Clagett OT, Woolner LB, Surgical treatment of mediastinal tumors. J Thorac Cardiovasc Surg, 1971; 62: 379- 91.
4. National Institutes of Health Consensus Development Conference: Neurofibromatosis. Conference Statement. Arch Neurol 1988; 45: 575- 8.
5. Robbins SL, Kumar V. Basic pathology of the mediastinum tumors, 4th edition, Washington, WB Saunders Company 1987: 910-6.
6. Mancheasky AM, Koneko M, Surgical Pathology of the mediastinum 2nd edition New York. Raven Press Ltd 1992; 300-27.
7. Rossi SE, Erasmus JJ, McAdams HP, Donelly LF. Thoracic manifestations of neurofibromatosis. AJR 1999; 173: 1631-8.
8. Levy P, Vidaud D, Leroy K et al. Molecular profilling of malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1, based on large scale realtime RT-PCR. Mol Cancer 2004; 3: 20-33.
9. Shields TW, Reynolds M. Neurogenic tumors of the thorax. Surg Clin North Am 1988; 68: 645- 668.
10. Kellemen JJ 3rd, Naunheim KS, Minimally invasive approaches to mediastinal neoplasms. Semin Thorac Cardiovasc Surg 2000;12: 301-6
11. Venissac N, Leo F, Hofman P, Paquis P, Mouroux J. Mediastinal neurogenic tumors and video-assisted thoracoscopy: always the right choice. Surg Laparosc Endosc Percutan Tech, 2004; 14: 20-22.