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)

We report a fifty three year old man who presented with progressive visual loss. Investigation disclosed a giant aneurysm with optic nerve compression, which was successfully treated surgically. The patient had typical skin lesions of tuberous sclerosis, but did not suffer from a seizure disorder or mental retardation. In the past he had had an enucleation for glaucoma secondary to a retinal phakoma. Cerebral aneurysms are discussed in relation to the tuberous sclerosis disease process. After review of the literature, we propose that the aneurysms are secondary to dysplastic change in the vessel walls, this is in keeping with the abnormal tissue proliferations in this disease.
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PMID:Visual loss secondary to a giant aneurysm in a patient with tuberous sclerosis. 651 31

Tuberous sclerosis was diagnosed in 21 patients (13 female, 8 male) at an age of 3 months to 17 years, 8 of them being younger than 1 year at the time of diagnosis. 14 cases occurred sporadic, 7 patients had a positive familial history of the disease. The diagnosis was based on typical cutaneous lesions (white spots in 19, adenoma sebaceum in 12), cerebral seizures (20 patients) and intracranial calcifications which were found in all 17 patients who were investigated by cranial computerized tomography, especially in all 5 patients who were investigated in the first year of life. In addition two patients showed tumors arising from the region of the frontal horns. Histological examination which was performed in one of them showed the typical picture of a subependymal giant cell astrocytoma. Seizures occurred within the first year of life in 15 of 20 patients. The most common seizure type were infantile spasms (11 patients), grand mal (10 patients) and partial seizures (7 patients). In two children Todd's palsies were observed. Mental retardation of variable degree was observed in 11 patients. Cystic renal lesions were found in one patient with severe haematuria and they were suspected in 3 others on ultrasonographic examination. Retinal phakoma was found in only one patient, cardial rhabdomyoma was suspected in another one who suffered from congenital multifocal atrial tachycardia. The diagnosis in the first year of life was based upon the typical trias of white spots, seizures and intracranial calcifications on CT examination.
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PMID:[Tuberous sclerosis. Clinical and computer tomography findings in infancy and childhood]. 672 96