A 1 year old child with mental retardation, seizures, and facial angiofibromas develops repeated episodes of syncope. Echocardiogram reveals a mass in the left ventricle producing intermittent obstruction. Pathologic examination of the resected mass demonstrates a cardiac rhabdomyoma. Which of the following lesions would this patient most likely also have?
The disease is tuberous sclerosis, in which coical hamaomas known as tubers can be associated with facial angiofibromas, cardiac rhabdomyomas (probably actually a skeletal muscle hamaoma), seizures, mental retardation, and astrocytomas. Associate acoustic neuromas with neurofibromatosis type II. Associate berry aneurysms with adult polycystic kidney disease. Associate meningiomas with breast cancer and, possibly, high estrogen states. Ref: Wyatt C., Butterwoh IV J.F., Moos P.J., Mackey D.C., Brown T.G. (2008). Chapter 6. Genetic Disorders. In C. Wyatt, J.F. Butterwoh IV, P.J. Moos, D.C. Mackey, T.G. Brown (Eds), Pathology: The Big Picture.
Acoustic neuromas
Berry aneurysm
Coical tubers
Meningiomas