WBR0685

Author	[[PageAuthor::Rim Halaby, M.D. [1]]]
Exam Type	ExamType::USMLE Step 1
Main Category	MainCategory::Pathology
Sub Category	SubCategory::Neurology
Prompt	[[Prompt::A 22 year old male patient with mental retardation and a history of seizures presents to the physician's office with several papulonodular lesions on the face since childhood. He explains that the lesions have been slowly increasing in size. Physical examination is remarkable for well-demarcated hypopigmented lesions on the right lower extremity and his back. Biopsy of the facial lesions is consistent with angiofibroma. Which of the following is most likely an additional finding in this patient?]]
Answer A	AnswerA::Cardiac rhabdomyoma
Answer A Explanation	AnswerAExp::Cardiac rhabdomyomas are associated with tuberous sclerosus.
Answer B	AnswerB::Pheochromocytoma
Answer B Explanation	AnswerBExp::Pheochromocytomas are associated with MEN II syndromes, von Hippel Lindau, Sturge-Weber syndrome, and neurofibromatosis type 1
Answer C	AnswerC::Iris hamartoma
Answer C Explanation	AnswerCExp::Iris hamartomas are associated with neurofibromatosis type 1.
Answer D	AnswerD::Accoustic schwannoma
Answer D Explanation	AnswerDExp::Bilateral accoustic schwannomas are seen in patients with neurofibromatosis type 2.
Answer E	AnswerE::Hemangioblastoma
Answer E Explanation	AnswerEExp::Hemangioblastomas are associated with von-Hippel Lindau disease.
Right Answer	RightAnswer::A
Explanation	[[Explanation::The patient is presenting with tuberous sclerosus. It is an autosomal dominant systemic disorder characterized by the presence of facial angiofibromas, hypopigmented ash leaf spots on the skin, cortical and retinal hamartomas, seizures, mental retardation, renal angiomyolipomas, cardiac rhabdomyomas, and astrocytomas. Not all findings are necessarily present in all patients with tuberous sclerosus. Educational Objective: Cardiac rhabdomyomas are associated with tuberous sclerosus. Educational Objective: References: ]]
Approved	Approved::No
Keyword	WBRKeyword::cardiac, WBRKeyword::rhabdomyoma, WBRKeyword::rhabdomyomas, WBRKeyword::tuberous, WBRKeyword::sclerosus, WBRKeyword::facial, WBRKeyword::angiofibroma, WBRKeyword::mental, WBRKeyword::retardation, WBRKeyword::autosomal, WBRKeyword::dominant, WBRKeyword::seizure, WBRKeyword::hamartoma, WBRKeyword::hamartomas, WBRKeyword::cortical, WBRKeyword::retinal, WBRKeyword::renal, WBRKeyword::angiomyolipoma, WBRKeyword::angiomyolipomas, WBRKeyword::astrocytoma, WBRKeyword::ash, WBRKeyword::leaf, WBRKeyword::spot, WBRKeyword::spots, WBRKeyword::hypopigmented
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