new_n_lost
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A 10-year-old boy has a small tumor in the wall of the right lateral ventricle. A biopsy of this tumor is consistent with subependymal giant cell astrocytoma.
Which of the following lesions may also be present in this patient?
A. Café-au-lait spots
B. Cortical tubers
C. Hemangioblastoma
D. Lisch nodules
E. Schwannoma of the 8th cranial nerve
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| acintya
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B. Cortical tubers
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| hope4dabest
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B
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| keepgoing
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yes TS,ans->B
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| silver
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B
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| jean robert
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Please tell me if i m wrong in my reasoning.
Cafe au lait spots and Lisch nodules are not because both are associated with Neurofibromatosis.
Neither hemangiblastoma nor schwannoma are related to astrocytoma.
So, answer is B.
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| new_n_lost
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acintya wrote:
B. Cortical tubers
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| new_n_lost
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The correct answer is B.
This objective of the question is to test your knowledge of neurocutaneous syndromes, a group of hereditary conditions characterized by concomitant neoplastic or hamartomatous lesions predominantly affecting the skin and nervous system, which during the exam can be very dificult to differentiate or most importantly to remember.
Subependymal giant cell astrocytoma is a peculiar astrocytic tumor that grows from the walls of the lateral ventricles. It is pathognomonic of tuberous sclerosis, which is caused by mutations of TS1 or TS2 genes. Tuberous sclerosis manifests with multiple hamartomatous lesions in the skin, CNS, and visceral organs. Cortical tubers are malformed (hamartomatous) nodules of the cortex, probably resulting from faulty cortical development. Other lesions include shagreen patches and ash-leaf spots on the skin, cardiac myomas, and renal angiomyolipomas.
Café-au-lait spots (choice A) are found in both types of neurofibromatosis.
Lisch nodules (choice D) are small pigmented nodular lesions of hamartomatous nature that are present in the iris of patients with neurofibromatosis type 1.
Schwannomas of the 8th cranial nerve (choice E), especially when bilateral, are typically associated with neurofibromatosis type 2.
Hemangioblastoma (choice C) is a vascular tumor of unknown histologic origin that frequently develops in the cerebellum of patients with von Hippel-Lindau syndrome. Renal cell carcinomas are also common in this disease. Von Hippel-Lindau syndrome is caused by autosomal dominant mutations of the VHL gene, a tumor suppressor gene. Recall that mutations of VHL gene are also found in the majority of sporadic renal cell carcinomas.
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| paheli
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excellent qn, nnl! thanks.
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