Case of Tuberous Sclerosis with Pulmonary Involvement

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.

Case of Tuberous Sclerosis with Pulmonary Involvement

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.

___

  • 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.
  • 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.
  • Johnson SR, Tattersfield AE. Clinical experience of lymphangioleiomyomatosis in the UK. Thorax 2000; 55: 1052- 1057.
  • Stepherd CW, Gomez MR, Lie JT, Crowson CS. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 1991; 66: 792-796.
  • 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.
  • 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.