Infantile spasms are characterized by sudden and brief extension or flexion of the extremities lasting just seconds at a time. One of the most important and common types is infantile spasms that typically present in the first year of life (peak 4 to 8 months). Patients with TSC may present with a variety of seizure types. Retinal hamartomas (m): present in up to 50% of patients, rarely change, and rarely cause vision loss Gingival fibromas (m) are small fibrous nodules that appear on the gums. Dental lesions: dental pits (m) occur in 90% of patients.Ungual/periungual fibromas: flesh-colored/pink bumps seen in the nail plate or on the side of the nail.Fibrous plaques (M): yellow-brown patches seen on the scalp/forehead.Facial angiofibromas (M): small pink/red bumps found symmetrically across the nose/cheeks.Occurs in approximately 50% of patients with TSC greater than 5 years old and is usually evident by age 10 years. Shagreen patch (M): irregular, rough patch of skin most often located over the lower back or thigh.Most common skin finding in TSC present in up to 98% of patients. Hypomelanotic macules/”ash-leaf spots” (M): small oval or leaf shaped patches of pale/white skin.Renal cell carcinoma: present in only 2 to 3% of patients with TSC.Renal cysts (m) and renal angiomyolipomas (M): present in 70 to 90% of patients with TSC at some point in their lifetime.May present with chest pain, shortness of breath, or spontaneous pneumothorax. Lymphangiomyomatosis (M): occurs in late adolescence/adulthood and affects females with TSC. Typically these get smaller with age, but can present with irregular heart rates or alteration of blood flow from the heart. Rhabdomyomas (M): growths in the heart that are a common feature in newborns diagnosed with TSC. Seizures: most common presenting sign of TSC occurring in 90% of patients.Autism: 25 to 50% of patients with TSC may develop autism, along with other delays in development. Giant cell astrocytoma (M): lesions that can grow and block flow of spinal fluid in the brain (found in up to 20% of patients with TSC). Subependymal nodules (M): small regions of abnormal brain tissue in the ventricles of the brain.Cortical tubers (M): abnormally developed regions of brain tissue. The disorder may present at any age and is often diagnosed based on specific clinical criteria and/or genetic testing. Tuberous Sclerosis Complex (TSC) is a genetic disorder that occurs in 1 out of 6,000 people and can involve multiple organs in the body, including the brain, heart, kidneys, lungs, eyes, and skin.
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