Tuberous Sclerosis with Polycystic Kidneys

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Tuberous sclerosis and polycystic kidney disease. A case report.

Polycystic kidney disease is a relatively uncommon finding of tuberous sclerosis. Furthermore, the renal insufficiency by the severe polycystic kidney disease is extremely rare in tuberous sclerosis. The patient was a 27-year-old man, complaining of generalized seizure and progressive abdominal distension. His clinical features were chracterized by epilepsy, mental retardation, skin abnormaliti...

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Tuberous Sclerosis and Polycystic Kidney Disease: A Rare Association.

Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are two different genetic diseases. Although these two diseases are associated very rarely, the association is well recognized. This occurs due to a large deletion involving both PKD-1 and TSC-2 genes on chromosome 16. This is also known as TSC-2/PKD-1 contiguous gene syndrome. We report a 26-year-old fema...

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Tuberous sclerosis with Cardiac Tumor in fetus with Diabetic Mother

Introduction A heart tumor in children is rare and the most primary tumor of the heart is rhabdomyoma. We report a case of cardiac mass diagnosed at 32th weeks of pregnancy while the mother had gestational diabetes Mellitus. Serial echocardiography revealed regression of the tumor; then follow up of the patient confirmed tuberous sclerosis.

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Tuberous sclerosis.

Tuberous sclerosis - also called tuberous sclerosis complex (TSC) - is a rare, multi-system genetic disorder affecting cellular differentiation & proliferation, which results in hamartoma formation in many organs. The classic triad of clinical features comprises mental retardation, epilepsy & skin lesion, but these three features are not always present. Mrs. Jahanara Khatun, a 30 years old lady...

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ژورنال

عنوان ژورنال: Proceedings of the Royal Society of Medicine

سال: 1969

ISSN: 0035-9157

DOI: 10.1177/003591576906200410