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{{WBRQuestion
{{WBRQuestion
|QuestionAuthor={{Rim}}
|QuestionAuthor={{Rim}}, {{AJL}} {{Alison}}
|ExamType=USMLE Step 1
|ExamType=USMLE Step 1
|MainCategory=Genetics
|MainCategory=Genetics
Line 20: Line 20:
|MainCategory=Genetics
|MainCategory=Genetics
|SubCategory=Neurology
|SubCategory=Neurology
|Prompt=A 2-year-old male is brought by his mother to the physician’s office for seizures. The mother describes that the her son 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?
|Prompt=A 2-year-old male is brought by his mother to the physician’s office for seizures. The mother describes that the her son has been developing unusually when compared to his siblings.  Work-up reveals cortical and retinal hamartomas, renal angiomyolipoma, astrocytoma, and cardiac rhabdomyoma. Which of the following additional findings will most likely be present in this patient?
|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]].  
|Explanation=[[Tuberous sclerosis]] is an [[autosomal dominant]] inherited disorder frequently characterized by [[seizures]], [[mental retardation]], facial [[adenoma sebaceum]], [[ash-leaf spots]] on skin, [[cortical]] and [[retinal]] [[hamartomas]], [[renal cysts]], [[angiomyolipomas]], [[cardiac rhabdomyoma]], and [[astrocytoma]].  The disease has a variable presentation and [[incomplete penetrance]].  
   
   
Educational Objective:
|EducationalObjectives= [[Tuberous sclerosis]] is an [[autosomal dominant]] inherited disorder frequently characterized by [[seizures]], [[mental retardation]], facial [[adenoma sebaceum]], [[ash-leaf spots]] on skin, [[cortical]] and [[retinal]] [[hamartomas]], [[renal cysts]], [[angiomyolipomas]], [[cardiac rhabdomyoma]], and [[astrocytoma]].  
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.
|References= First Aid 2014 page 87


|AnswerA=Fitzpatrick patches (Ash-leaf spots)
|AnswerA=Fitzpatrick patches (Ash-leaf spots)
|AnswerAExp=Fitzpatrick patches or ash-leaf spots are found in tuberous sclerosis.
|AnswerAExp= See explanation.
|AnswerB=Oral ganglioneuromas
|AnswerB=Oral ganglioneuromas
|AnswerBExp=Oral neurogangliomas are seen in MEN2B syndrome, which is caused by a mutation of the ret oncogene.
|AnswerBExp=Oral neurogangliomas are frequently observed in MEN2B syndrome, which results from a mutation of the ret oncogene.
|AnswerC=Retinal hemangioblastoma
|AnswerC=Retinal hemangioblastoma
|AnswerCExp=Renal hemangioblastoma is found in von Hippel-Lindau disease that is caused by a deletion of VHL gene on chromosome 3.  
|AnswerCExp=Renal hemangioblastoma is frequently observed in [[von Hippel-Lindau disease]], which results from a deletion of the VHL gene on chromosome 3.  
|AnswerD=Bilateral acoustic schwannomas
|AnswerD=Bilateral acoustic schwannomas
|AnswerDExp=Bilateral acoustic schwannomas are seen in neurofibromatosis type II. NF2 gene is located on chromosome 22.
|AnswerDExp=Bilateral acoustic schwannomas are frequently observed in [[neurofibromatosis]] type II. The NF2 gene is located on chromosome 22.
|AnswerE=Cystic medial necrosis of the aorta
|AnswerE=Cystic medial necrosis of the aorta
|AnswerEExp=Cystic medial necrosis of the aorta is seen in patients with Marfan syndrome, a mutation of the FBN1 gene that encodes fibrillin.  
|AnswerEExp=Cystic medial necrosis of the aorta is frequently observed in patients with [[Marfan syndrome]], a mutation of the FBN1 gene that encodes fibrillin.  
|RightAnswer=A
|RightAnswer=A
|WBRKeyword=tuberous, sclerosis, ash, leaf, spot, hamartoma, angiomyolipoma, rhabdomyoma, astrocytoma, autosomal, dominant
|WBRKeyword=tuberous sclerosis, ash leaf spot, hamartoma, angiomyolipoma, rhabdomyoma, astrocytoma, autosomal dominant, inheritance, genetics, expression
|Approved=No
|Approved=Yes
}}
}}

Revision as of 18:38, 22 July 2014
Author [[PageAuthor::Rim Halaby, M.D. [1], Alison Leibowitz [2] (Reviewed by Alison Leibowitz)]]
Exam Type ExamType::USMLE Step 1
Main Category MainCategory::Genetics
Sub Category SubCategory::Neurology
Prompt [[Prompt::A 2-year-old male is brought by his mother to the physician’s office for seizures. The mother describes that the her son has been developing unusually when compared to his siblings. Work-up reveals 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::See explanation.
Answer B AnswerB::Oral ganglioneuromas
Answer B Explanation AnswerBExp::Oral neurogangliomas are frequently observed in MEN2B syndrome, which results from a mutation of the ret oncogene.
Answer C AnswerC::Retinal hemangioblastoma
Answer C Explanation [[AnswerCExp::Renal hemangioblastoma is frequently observed in von Hippel-Lindau disease, which results from a deletion of the VHL gene on chromosome 3.]]
Answer D AnswerD::Bilateral acoustic schwannomas
Answer D Explanation [[AnswerDExp::Bilateral acoustic schwannomas are frequently observed in neurofibromatosis type II. The 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 frequently observed 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 frequently characterized by seizures, mental retardation, facial adenoma sebaceum, ash-leaf spots on skin, cortical and retinal hamartomas, renal cysts, angiomyolipomas, cardiac rhabdomyoma, and astrocytoma. The disease has a variable presentation and incomplete penetrance.

Educational Objective: Tuberous sclerosis is an autosomal dominant inherited disorder frequently characterized by seizures, mental retardation, facial adenoma sebaceum, ash-leaf spots on skin, cortical and retinal hamartomas, renal cysts, angiomyolipomas, cardiac rhabdomyoma, and astrocytoma.
References: First Aid 2014 page 87]]

Approved Approved::Yes
Keyword WBRKeyword::tuberous sclerosis, WBRKeyword::ash leaf spot, WBRKeyword::hamartoma, WBRKeyword::angiomyolipoma, WBRKeyword::rhabdomyoma, WBRKeyword::astrocytoma, WBRKeyword::autosomal dominant, WBRKeyword::inheritance, WBRKeyword::genetics, WBRKeyword::expression
Linked Question Linked::
Order in Linked Questions LinkedOrder::
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