Downloads: 112 | Views: 220
Case Studies | Radiological Sciences | India | Volume 5 Issue 4, April 2016
Tuberous Sclerosis Complex Syndrome Cardiovascular and Renal Manifestation of Tuberous Sclerosis Complex and Summary of the Revised Diagnostic Criteria
Abstract: Tuberous sclerosis complex Syndrome (TSCs) is a dominantly inherited disorder affecting multiple organs, caused by mutations of either the TSC1 or TSC2 gene encoding hamartin and tuberin respectively. It is characterized by the development of benign tumors affecting different body systems. It is important to make an early diagnosis of TSC so that life long monitoring, early recognition of complications and proactive treatment can lower the morbidity and mortality rates. We report a case of 3 Month old male infant in India with the features of Tuberous sclerosis complex syndrome like hypopigmented macules (>3), Rabdomyoma of heart, angiolipoma of the kidney, seizures since birth on background of family history of elder sister having (adenoma sebaceum, interact able seizures and mentally challenges since birth) also mother having similar adenoma sebaceum and seizures but due to family background of low economic status has not undergone further workup or evaluation. The central nervous system findings in this young baby were the first to be described, clinical findings of progressively increasing seizure episodes since day 6 of life and there are multiple hypopigmented macules over thigh, back and near axillary region.
Keywords: TSC1 & TSC2 genes, Tuberous Sclerosis Complex TSC, EPILOIA Epi epilepsy, Loi low intelligence, A adenoma sebaceum
Edition: Volume 5 Issue 4, April 2016,
Pages: 1304 - 1308