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Neurodegenerative syndrome characterized by lesions of the skin, tumor growth, and seizures. Some patients present with mental retardation and autism. Rhabdomyoma of the heart and astrocytoma in the brain are frequent tumoral presentation.

Tuberous sclerosis

Characteristic facial adenoma sebaceum in a “butterfly” distribution in the face of a young man with tuberous sclerosis.

Tuberous sclerosis

Subungual fibromas (Koenen tumors) in a patient with tuberous sclerosis.

Tuberous sclerosis

The funduscopy of the left eye shows an astrocytic hamartoma of the retina with calcifications (Drusen) typical of tuberous sclerosis.

Tuberous sclerosis

Large aneurysm of the abdominal aorta in a 2-year-old child with tuberous sclerosis. The aneurysm (solid arrows) extends from the level of the diaphragm all the way down to the aortic bifurcation. The outlined arrows mark the internal iliac arteries, while the catheter (*) is advanced from the femoral artery.

Bourneville Syndrome; Bourneville-Pringle Syndrome.

1:25,000 to 1:30,000 live births. Nearly 1 million people worldwide are known to have tuberous sclerosis, including approximately 50,000 in the United States.

Autosomal dominant with variable penetrance. De novo mutations have been confirmed on gene located on chromosome 9q33-34 and chromosome 16p13. If two or more siblings have tuberous sclerosis, one parent always has at least one skin manifestation of tuberous sclerosis. Sporadic transmission rate varies from 58 to 77%. If both parents are normal, a child with tuberous sclerosis must be a new mutation. It is believed that only 33% of all tuberous scleroses are inherited.

Multiorganic disease affecting mainly the brain and skin, but also the heart, lung, kidney, bone, and eye.

Heterogeneous disease with a wide clinical spectrum. The presence and importance of seizures is variable, as is the importance of mental retardation. In general, the youngest children at the moment of clinical presentation have the worse mental retardation. The diagnosis is based on clinical suspicion and demonstration of typical lesions on the skin or retina. A head MRI or CT scan often confirms the diagnosis. Epilepsy, mental retardation, “salaam” seizures, and angiofibromas of numerous organs with intracranial hamartomatous lesions involving subependymal nodules and cerebral cortical tubers are characteristic of this phacomatosis.

Clinical signs appear shortly after birth and worsen with age. Mental retardation and uncontrolled seizures occur in half of the cases. The principal finding is of tuber lesions on the skin or in the brain. Skin lesions include adenoma sebaceum (80% of cases), which are rarely present at birth (onset at 4 to 6 ...

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