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  #1  
Old 10-10-2012
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Arrow Billy Step 1 Questions # 22

A 20-year-old, mentally retarded woman saw the physician because she had flank pain for 1 week. Physical
examination showed right costovertebral angle tenderness. Patches of leathery-appearing (shagreen patches) and
hypopigmented (ash-leaf patches) skin were scattered over her body. There was a subungual nodule on her right index
finger. Abdominal CT scan showed bilateral renal cysts and tumor masses. MRI of the brain showed subependymal
nodules and 1- to 4-cm cortical foci with loss of the gray-white distinction. CT scan of the chest showed a 3-cm mass
involving the interventricular septum. Two years later, she has sudden, severe headache. MRI now shows a nodule
obstructing the cerebral aqueduct. Neurosurgery is performed, and a subependymal giant-cell astrocytoma is removed.
What is the most likely diagnosis?


□ (A) Down syndrome
□ (B) Krabbe disease
□ (C) Neurofibromatosis type 1
□ (D) Neurofibromatosis type 2
□ (E) Tuberous sclerosis
□ (F) Von Hippel–Lindau disease
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  #2  
Old 10-10-2012
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E) tuberous sclerosis-----ash leaf macules,sha ggreen patches,astrocytomas are buzzwords

thanq
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Old 10-10-2012
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tuberous sclerosis..
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Old 10-10-2012
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My answer is E) Tuberous sclerosis. Thanks for the question because I am still having a hard time differentiating between tuberous sclerosis and von Hippel Lindau. I don;t know why.
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Old 10-10-2012
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Default my answer :)

(E) Tuberous sclerosis
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  #6  
Old 10-10-2012
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E. tuberous sclerosis- stem is full of buzzword. I certainly love these kinda questions. ;-)


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Old 10-10-2012
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Correct Answer Yes E is correct

Tuberous sclerosis is one of the phakomatoses—rare inherited disorders in which hamartomas and neoplasms
develop throughout the body, along with cutaneous abnormalities. Patients with tuberous sclerosis have cortical tubers,
which are hamartomas of neuronal and glial tissue; other characteristic findings include renal angiomyolipomas, renal
cysts, subungual fibromas, and cardiac rhabdomyomas. In Down syndrome (trisomy 21), patients may develop acute
leukemia, but not brain neoplasms, and individuals who survive to middle age develop Alzheimer disease. Krabbe disease
is a leukodystrophy that results in deficiency of galactocerebroside β-galactosidase and an onset of neurologic
deterioration in infancy. Neurofibromatosis type 1 is characterized by deforming cutaneous and visceral neurofibromas,
cutaneous café-au-lait spots, and neurofibrosarcomas. In neurofibromatosis type 2, acoustic schwannomas, meningiomas,
gliomas, and ependymomas are present. Von Hippel–Lindau disease is characterized by hemangioblastomas in the
cerebellum, retina, and spinal cord, and by pheochromocytomas.
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Old 01-18-2015
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Tuberous scelerosis
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Old 01-18-2015
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Cool My answer

(E) Tuberous sclerosis
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  #10  
Old 09-01-2015
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Default More questions please...

the post might be OLD but the questions seem to be good... Please if you have time post more questions good learning tool..

Thank you
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