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.
Characteristic facial adenoma sebaceum in a “butterfly” distribution
in the face of a young man with tuberous sclerosis.
Subungual fibromas (Koenen tumors) in a patient with tuberous
The funduscopy of the left eye shows an astrocytic hamartoma of the
retina with calcifications (Drusen) typical of 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 ...