Abstracts

Rationale: Tuberous sclerosis is a genetic disorder - autosomal dominant disease - characterized by multisystem hamartomas. The genes related are TSC1 and TSC2, encoding hamartin and tuberin respectively. These two proteins form a complex that inhibits the mammalian-target-of-rapamycin (mTOR) pathway, which controls cell growth and proliferation. Between the most common manifestations that carries great morbidity, renal angiomyolipomas and giant cell astrocytomas.Methods: Case 1: Female, ten years old, with tuberous sclerosis, diagnosed at nine months old, in attendance at this service since two years old. She was submitted to a renal ultrasound (US) every three years since the beginning of the surveillance. At the age of seven years old, has shown for the first time, images suggestive of angiomyolipomas at the right kidney (0.5 cm), and at the left kidney (0.8 and 0, 7cm). Control exam was requested with the interval of 12 months, not performed by the mother. At 9 years old, she had an acute abdomen. Abdomen tomography showed an expansive mass (6 x 5.6 x 4.5 cm) at the left kidney with signs of recent bleeding. Solid lesion (2 cm) in the upper pole of the right kidney and another in the middle third (1 cm). She underwent left nephrectomy and histopathologic examination confirmed angiomyolipoma. Case 2: Male, 12 month old, with tuberous sclerosis, diagnosed at birth because of cardiac rhabdomyomas found on prenatal ultrasound. Nuclear magnetic resonance at the first month, showed images suggestive of cortical tuber, subependymal nodules, left subependymal giant cell astrocytoma and isolated dilatation of the left lateral ventricle. The subsequent performed images shown discrete enlargement of the subependymal giant cell astrocytoma without worsen of the hydrocephalus. He continues to be followed by the Neurologic Research Group of Tuberous Sclerosis and remain without seizures and psychomotor development is adequated for his age, at the moment.Results: The patient reported was not at puberty and showed unexpected growth of AML (from 0,8 cm to 6 cm in diameter) in 2 years, with acute hemorrhage. The current consensus suggests that the US is done every three years when the exam is normal or show only cysts, and annually, when there are heterogeneous lesions identified and when the patient is at puberty, specially women. Subependymal giant-cell astrocytomas are glioneuronal tumors which arise near the foramen of Monro. Five to twenty percent of patients with the tuberous sclerosis complex develop this kind of lesion. They are usually diagnosed in the second decade of life, rarely occurring as a congenital lesion. In the case of congenital tumors, the prognosis is worse, because the tumor has a more aggressive nature.Conclusions: Performing the periodic exams is the only way to avoid complications inherent to these Tuberous Sclerosis Complex tumors when the lesions are early diagnosed, the patient gain the chance to treat them, surgically or pharmaceutically, before the complication occurs, what improves quality of life, the aim of the surveillance.