13-year-old tuberous sclerosis patient with renal cell carcinoma associated with multiple renal angiomyolipomas developing multifocal micronodular pneumocyte hyperplasia

摘要

Background The autosomal dominant tumor syndrome tuberous sclerosis complex is caused by the mutated TSC1 gene, hamartin, and the TSC2 gene, tuberin. Patients with this complex develop typical cutaneus symptoms such as peau chagrin or angiofibromas of the skin as well as other lesions such as astrocytomas in the brain and lymphangioleiomyomatosis in the lung. Only a few tuberous sclerosis patients have been described who showed a multifocal micronodular pneumocyte hyperplasia of the lung. Another benign tumor which often occurs together with tuberous sclerosis is the angiomyolipoma of the kidney. Furthermore, an increased incidence of renal cell carcinoma in connection with tuberous sclerosis has also been proven. Case presentation We report a 13-year-old white girl with epilepsy and hypopigmented skin lesions. Radiological studies demonstrated the typical cortical tubers leading to the diagnosis of tuberous sclerosis. In the following examinations a large number of angiomyolipomas were found in both kidneys. One lesion showed an increasing size and tumor like aspects in magnetic resonance imaging. The pathological examination of the following tumorectomy demonstrated an unclassified renal cell carcinoma. Four months postoperatively, a follow-up computer tomography revealed multiple bilateral pulmonary nodules. To exclude lung metastases of the renal cell carcinoma, multiple open-lung biopsies were performed. Conclusion Here we report a diagnostically challenging case of a 13-year-old patient with tuberous sclerosis and angiomyolipomas of the kidney who developed an unclassified renal cell carcinoma as well as multifocal micronodular pneumocyte hyperplasia.