Cantürk TAŞCI, Carl R. FUHRMAN, Arzu BALKAN

Case of tuberous sclerosis with pulmonary ınvolvement

Tuberoskleroz nadir rastlanan genetik bir hastalıktır. Tuberoskleroz tanısı iki major veya bir major iki minor bulgunun varlığı ile konur. Pulmoner tutulum % 1 den daha az hastada görülür ve kötü prognoz kriteri olarak raporlanmaktadır. PPD pozitişiği nedeniyle araştırılan pulmoner tutulumu olan bir bayan hastayı sunmayı uygun gördük.

Pulmoner tutulumla seyreden tuberoskleroz olgusu

Tuberous sclerosis is a rare genetic disorder. The diagnosis of tuberous sclerosis requires the presence of two major or one major and two minor features. Pulmonary involvement has been reported to occur in less than 1% in patients and carries a poor prognosis. We present a female tuberous sclerosis patient with pulmonary involvement, evaluated for a positive PPD reaction.

PDF

___

1. Osborne JP, Fryer A, Webb D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci 1991; 615: 125-127.
2. Levy M, Feingold J. Estimating prevalence in single-gene kidney diseases progressing to renal failure. Kidney Int 2000; 58: 925- 943.
3. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Chield Neurol 1998; 13: 624-628.
4. Pallisa E, Sanz P, Roman A, Majo J, Andreu J, Caceres J. Lymphangioleiomyomatosis: pulmonary and abdominal findings with pathologic correlation. Radiographics 2002; 22: S185- S198.
5. Castro M, Stepherd CW, Gomez M, Lie JT, Ryu JH. Pulmonary tuberous sclerosis. Chest 1995; 107: 189-195.
6. Van Baal JG, Smits NJ, Keeman JN, Lindhout D, Verhoef S. The evolution of renal angiomyolipomas in patients with tuberous sclerosis. J Urol 1994; 152: 35-38.
7. Maziak DE, Kesten S, Rappaport DC, Maurer J. Extrathoracic angiomyolipomas in lymphangioleiomyomatosis. Eur Respir J 1996; 9: 402-405.
8. Yagci C, Sahin-Akyar G, Akyar S. Multiple organ involvement in tuberous sclerosis. Eur J Rad 1997; 25: 52-54.
9. De Pauw RA, Boelaert JR, Haenebalcke CW, Matthys EG, Schurgers MS, De Viriese AS. Renal angiomyolipoma in association with pulmonary lymphangioleiomyomatosis. Am J Kid Dis 2003; 41: 877-883.
10. Tuzel E, Kirkali Z, Mungan U, Culer C, Sade M. Giant angiomyolipoma associated with marked pulmonary lesions suggesting lymphangioleiomyomatosis in a patient with tuberous sclerosis. Int Urol Nephrol 2000; 32: 219-222.
11. Johnson SR, Tattersfield AE. Clinical experience of lymphangioleiomyomatosis in the UK. Thorax 2000; 55: 1052- 1057.
12. Stepherd CW, Gomez MR, Lie JT, Crowson CS. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 1991; 66: 792-796.
13. Van Slegtenhorst M, De Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997; 277: 805-808.
14. Kwiatkowska J, Jozwiak S, Hall F, Henske EP, Haines JL, McNamara P et al. Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. Ann Hum Genet 1998; 62: 277- 285.