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Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin.
Individuals with this type of tumor may have no symptoms if cerebrospinal fluid (CSF) flow remains open. Obstruction of CSF flow will result in the symptoms associated with increased CSF pressure: nausea, vomiting, headache (often positional), lethargy, blurry or double vision, new or worsened seizures, and personality change.
Typically, it presents in children aged 3–5 years and most of the time persists into adulthood with slight changes in the electroclinical phenotype. [2] [3] It has been associated with perinatal injuries, congenital infections, brain malformations, brain tumors, genetic disorders such as tuberous sclerosis and numerous gene mutations.
The complex is known as a tumor suppressor. Mutations in these genes can cause tuberous sclerosis complex. Depending on the grade of the disease, intellectual disability, epilepsy and tumors of the skin, retina, heart, kidney and the central nervous system can be symptoms.
A case of tuberous sclerosis showing facial angiofibromas in characteristic butterfly pattern. Herbert L. Fred, MD and Hendrik A. van Dijk Symptoms and signs of tuberous sclerosis Tuberous sclerosis complex (TSC) is a multisystemic disorder due to autosomal dominant mutations in either TSC1 or TSC2 which results in the impaired inhibition of ...
Ann Mercy Hunt MBE and others found the Tuberous Sclerosis Association in the UK to provide self help and to fund research. [47] 1979 Manuel Gómez published a monograph: "Tuberous Sclerosis" that remained the standard textbook for three editions over two decades. The book described the full clinical spectrum of TSC for the first time and ...
The most common symptoms of CNS tumors are headache, vomiting, and nausea. Symptoms vary depending on the tumor and may include unsteady gait, slowed speech, memory loss, loss of hearing and vision, problems with memory, narrowing of visual field, and back pain. Symptoms may also vary greatly between individuals with the same tumor type.
This is a list of major and frequently observed neurological disorders (e.g., Alzheimer's disease), symptoms (e.g., back pain), signs (e.g., aphasia) and syndromes (e.g., Aicardi syndrome). There is disagreement over the definitions and criteria used to delineate various disorders and whether some of these conditions should be classified as ...