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)

Tuberous sclerosis was first described in 1862 by von Recklinghausen. Since then there have been many advances in our understanding of the diagnosis, pathogenesis, and treatment of this disease complex, especially after it was characterized genetically. While many patients who have tuberous sclerosis present with the classic triad of mental retardation, seizures, and facial "adenoma sebaceum," most do not because of its variable penetrance. The diagnostic criteria have been revised to include patients with tuberous sclerosis who do not match the classic pattern. Here we describe a 44-year-old female without a prior diagnosis who did not have the classic triad but who presented with flank pain. Hemorrhagic angiomyolipoma was diagnosed by computerized tomography scan and she was treated by an embolization procedure. We review tuberous sclerosis and underscore the need to consider this diagnosis for the following reasons: 1. it is not uncommon (slightly more than one in 6,000 live births); 2. its presentation is protean; 3. once the diagnosis is made, search can be made for associated findings that may lead to additional morbidity if not carefully managed, e.g., if an angio-myolipoma is diagnosed, it can be followed and possibly treated; and 4. owing to its autosomal dominant pattern of inheritance, members of the family can be screened appropriately.
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PMID:Hemorrhagic angiomyolipoma and tuberous sclerosis complex: a case report. 1280 49

Polyarteritis nodosa is a systemic vasculitis of medium and small-sized arteries associated with aneurysm formation. Aneurysms may be complicated by thrombosis, rupture and hemorrhage. Kidney involvement in polyarteritis nodosa can rarely be complicated by Wunderlich syndrome which is characterized by acute onset of spontaneous, nontraumatic subcapsular and perirenal hematomas. A 22-year-old woman with mental retardation due to childhood cytomegalovirus infection presented with flank pain, weight loss and fever, and was found to have bilateral subcapsular and perinephric hematomas. Spontaneous bilateral renal hemorrhage as the initial manifestation of polyarteritis nodosa is rare, and it can be associated with delays in diagnosis and treatment.
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PMID:Bilateral subcapsular and perinephric hemorrhage as the initial presentation of polyarteritis nodosa. 2257 90

Tuberous sclerosis complex (TSC) has several renal manifestations including angiomyolipomas (AML) and renal epithelial neoplasms. A bilateral giant renal AML is extremely rare. We report a case of giant bilateral AML and discuss the diagnosis and treatment of it. The 22-year-old man was admitted due to bilateral flank pain, gross hematuria, and abdominal fullness. He had history of epilepsy, mental retardation, and delayed development during childhood. He had angiofibroma on his face since 10 years ago. Abdominal CT and MRI revealed large lobulated heterogeneous mass with fatty content. Based on those findings, we diagnosed the patient with bilateral giant renal AML. We gave conservative management for the patient and planned to total nephrectomy on the left kidney if the continued bleeding occurred. AML associated with TSC occur more frequently as multiple lesions and grows to larger size than idiopathic AML. Bilateral giant AML, which is very rare, could be treated with conservative management if no significant hemorrhage occurred.
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PMID:Bilateral Giant Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Complex: A Case Report. 2968 77

Tuberous sclerosis complex has several renal manifestations like angiomyolipomas. We report a case of a giant AML and discuss its diagnosis and treatment. A 42-year-old woman was admitted to emergency department due to flank pain and hematuria. The patient had history of mental retardation and epilepsy. Abdominal CT without contrast medium revealed a large mass with a fat/blood content inside. On those findings, we diagnosed the patient a bleeding giant AML. We performed selective embolization of the bleeding source with subsequent conservative management. TSC-associated AMLs occur more frequently as multiple lesions and grow to larger size than idiopathic AML.
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PMID:Conservative treatment of monolateral giant renal angiomyolipoma in a patient with Tuberous Sclerosis Complex (TSC): A case report. 3310 10