Tuberous sclerosis: a genetic study.
نویسندگان
چکیده
منابع مشابه
Association of Pemphigus Vulgaris and Tuberous Sclerosis: A case report
Pemphigus vulgaris is a blistering autoimmune disease with suprabasal cleft formation, which is the most common autoimmune blistering disease in eastern countries, such as Middle East. Predisposition to pemphigus is linked to genetic factors. Tuberous sclerosis is also a genetic disorder of hamartoma formation in many organs, particularly the skin, brain, eye, kidney and heart. We report ...
متن کاملA Patient with Tuberous Sclerosis Complex and Spinal Muscular Atrophy; A Case Report
Background Tuberous Sclerosis Complex (TSC), and Spinal Muscular Atrophy (SMA) are two inherited disorders while they are genetically independent. TSC is characterized by the formation of multiple hamartomas in nearly all organs. SMA is a destructive neurological disorder leading to progressive muscular weakness and atrophy. Case Presentation</e...
متن کاملOn the incidence of fits and mental retardation in tuberous sclerosis.
OBJECTIVES To establish the frequency of fits and mental retardation in an unbiased group of tuberous sclerosis patients. METHODS Known tuberous sclerosis families with more than one affected person were ascertained for a genetic linkage study. A number of members were born after genetic counselling had been given after identification of the proband. These subjects were then carefully examine...
متن کاملCardiac Rhabdomyomas and Congenital Hypothyroidism: A Coincidence or Hamartia
Cardiac rhabdomyomas are the most common primary cardiac tumors in children. These tumors are generally asymptomatic, although they may be associated with neonatal tuberous sclerosis complex. Despite the fact that thyroid dysfunction rarely occurs in tuberous sclerosis, papillary adenomas (hamartomas) of the thyroid gland have been reported in a number of autopsies. Herein, we present the case ...
متن کاملTuberous 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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عنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 32 6 شماره
صفحات -
تاریخ انتشار 1969