WBR0437

Author	[[PageAuthor::Rim Halaby, M.D. [1]]]
Exam Type	ExamType::USMLE Step 1
Main Category	MainCategory::Genetics
Sub Category	SubCategory::Neurology
Prompt	[[Prompt::A 2 year old male patient is brought by his mother to the physician’s office for seizures. The mother describes that the patient seems to have an “unusual” development as compared to his other siblings. Work-up of the patient reveals he has cortical and retinal hamartomas, renal angiomyolipoma, astrocytoma, and cardiac rhabdomyoma. Which of the following additional findings will most likely be present in this patient?]]
Answer A	AnswerA::Fitzpatrick patches (Ash-leaf spots)
Answer A Explanation	AnswerAExp::Fitzpatrick patches or ash-leaf spots are found in tuberous sclerosis.
Answer B	AnswerB::Oral ganglioneuromas
Answer B Explanation	AnswerBExp::Oral neurogangliomas are seen in MEN2B syndrome, which is caused by a mutation of the ret oncogene.
Answer C	AnswerC::Retinal hemangioblastoma
Answer C Explanation	AnswerCExp::Renal hemangioblastoma is found in von Hippel-Lindau disease that is caused by a deletion of VHL gene on chromosome 3.
Answer D	AnswerD::Bilateral acoustic schwannomas
Answer D Explanation	AnswerDExp::Bilateral acoustic schwannomas are seen in neurofibromatosis type II. NF2 gene is located on chromosome 22.
Answer E	AnswerE::Cystic medial necrosis of the aorta
Answer E Explanation	AnswerEExp::Cystic medial necrosis of the aorta is seen in patients with Marfan syndrome, a mutation of the FBN1 gene that encodes fibrillin.
Right Answer	RightAnswer::A
Explanation	[[Explanation::Tuberous sclerosis is an autosomal dominant inherited disorder characterized by seizures, mental retardation, adenoma sebaceum on face, ash-leaf spots on skin, cortical and retinal hamartomas, renal cysts and angiomyolipomas, cardiac rhabdomyoma, astrocytoma. The disease, however, has a variable presentation and an incomplete penetrance. Educational Objective: Tuberous sclerosis is an autosomal dominant inherited disorder characterized by seizures, mental retardation, adenoma sebaceum on face, ash-leaf spots on skin, cortical and retinal hamartomas, renal cysts and angiomyolipomas, cardiac rhabdomyoma, astrocytoma. Educational Objective: References: ]]
Approved	Approved::No
Keyword	WBRKeyword::tuberous, WBRKeyword::sclerosis, WBRKeyword::ash, WBRKeyword::leaf, WBRKeyword::spot, WBRKeyword::hamartoma, WBRKeyword::angiomyolipoma, WBRKeyword::rhabdomyoma, WBRKeyword::astrocytoma, WBRKeyword::autosomal, WBRKeyword::dominant
Linked Question	Linked::
Order in Linked Questions	LinkedOrder::