Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Angiomyolipomas (AML) are mesenchymal tumors of the kidney consisting of varying proportions of vascular, immature smooth muscle and mature fat cells. A rare case of testicular AML is described. A 53 year old male with a history of congenital motor defects, mental retardation, and hypertension, presented to the emergency room with sudden onset, severe left testicular pain. Scrotal sonography demonstrated an hypoechoic mass in the patient's left testicle. The patient was offered and underwent a trans-inguinal exploration of the left testicle which ended in a left inguinal orchiectomy. Pathologic examination of the mass revealed medium to large calibre thick-walled blood vessels with ectatic lumina, surround by sclerotic, fibrous smooth muscle bundles in a fatty milieu. Immunohistochemistry of the lesion demonstrated positive staining for smooth muscle actin (SMA+) and endothelial marker CD34. The lesion did not, however, stain positively for smooth muscle antigen S100 or melanocytic antigen HMB-45.
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PMID:A case of angiomyolipoma of the spermatic cord and testicle. 2321 Apr 12