• It is an autosomal dominant disease and is characterized by the triad of convulsions, mental retardation, facial angiofibroma (adenoma sebaceum).
pathophysiology
• It develops due to mutations in the TSC-1 gene on chromosome 9, which encodes a protein called hamartin, and TSC-2, tumor suppressor genes on chromosome 16, which encodes a protein called tuberin. 65% of spontaneous genetic mutations occur.
Diagnostic Criteria
Convulsions are often in the form of infantile spasm (West syndrome) in infancy. After the age of one, convulsions appear in the form of Lennox-Gestaut syndrome.
• The characteristic brain lesion is the cortical tubercle in the CNS.
• Mental retardation is rare.
Treatment
• Convulsions respond well to ACTH or vigabatrin.
• Everolimus is tried in selective cases prior to surgery for facial angiofibromas, cardiac rhabdomyoma, and renal angiomyolipomas.
