Abstract:
Tuberous Sclerosis exhibits an autosomal dominant inheritance pattern, with a high spontaneous mutation rate. The TSC2 gene was named tuberin. The highest levels of tuberin are found in adult human brain, heart, and kidney; tuberin also has been localized to arterioles of kidney, skin, and heart, as well as to pyramidal neurons and cerebellar Purkinje cells. Complications of neurological involvement are the most common causes of mortality and morbidity. These are due chiefly to intractable epilepsy, status epilepticus, and subependymal giant cell astrocytoma (SEGA) with associated hydrocephalus. We report a case a 33 years old sudanese female with intractable seizure in spite of polypharmacy with skin, renal, and cerebral manifestations of tuberous sclerosis.
Description:
Tuberous Sclerosis exhibits an autosomal dominant inheritance pattern, with a high spontaneous mutation rate. The TSC2 gene was named tuberin. The highest levels of tuberin are found in adult human brain, heart, and kidney; tuberin also has been localized to arterioles of kidney, skin, and heart, as well as to pyramidal neurons and cerebellar Purkinje cells. Complications of neurological involvement are the most common causes of mortality and morbidity. These are due chiefly to intractable epilepsy, status epilepticus, and subependymal giant cell astrocytoma (SEGA) with associated hydrocephalus. We report a case a 33 years old sudanese female with intractable seizure in spite of polypharmacy with skin, renal, and cerebral manifestations of tuberous sclerosis.
