Tuberous sclerosis, deep vein thrombosis and lack of C and S proteins: A case report

Introduction: Tuberous sclerosis, an autosomal dominant disorder, is characterized by hamartomas in different organs of body. Kidney involvement is quite common in this disorder and sometimes it is accompanied by adult polycystic kidney disease. Case: A 46-year-old woman who was being treated for adult polycystic kidney disease and systemic hypertension was admitted to this hospital because of acute lower limb edema. Color Doppler sonography study showed deep vein thrombosis of lower limbs and also left iliac vein. Despite the initiation of hourly heparin infusion, the patient involved by pulmonary emboli on the 2nd day of admission. Lab tests revealed protein C and S deficiency. The patient had already experienced episodes of pneumothorax too. Cutaneous lesions due to sebaceous adenoma were seen on her cheeks, nose and neck. She had also periungual fibroma suggestive of tuberous sclerosis. Conclusion: Although, according to our patient with both tuberous sclerosis and protein C and S deficiency, a significant relation between these two diseases, cannot confirmed, however, evaluation of other patients who have tuberous sclerosis can help to confirm or rule out this relation.