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Tuberous Sclerosis: Genetic Analysis

Tuberous sclerosis is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It affects the central nervous system and results in symptoms like seizures, developmental delay, behavioral problems, skin abnormalities, and kidney disease.

Dr. Jian Yu, et al. from Sun Yat-sen University (PR China) studied a case of patient with Tuberous Sclerosis, which is a TSC associated with a novel mutation in the TSC2 gene. A 31-year-old man was admitted in the hospital with a 7-months history of sudden-onset loss of consciousness. The symptoms identified are lack of responsiveness to any external stimuli and urinary incontinence. Each attack lasted for 4-5 seconds, with a frequency of 1-2 episodes a day. The patient was unaware of the attack, and often felt dizziness before onset.

The doctor visited the outpatient clinic, and was diagnosed with secondary epilepsy. The patient was treated with oxcarbazepine for a week, after that the patient didn’t experience any further attacks. His previous medical history, personal history, and family history revealed no significant findings. Physical examination revealed many adenomas on the face. The results of neurological examination were normal. MRI scanning showed multiple patchy signal abnormalities in the brain, and round abnormal signal intensity deep in the left temporal lobe. CT revealed similar abnormalities. With long-term video EEG they observed abnormal recordings. The CSF findings were normal with the exception of mild elevation of IgA, IgM, and Igg.

They conducted genetic analysis of the blood of the patient and the results of genetic analysis revealed a normal mutation in the TSC2 gene. Based on these findings the patient was diagnosed with TSC. Based on the diagnostic criteria mentioned above, the case displayed two major features and one minor feature. Hence, this can be classified as definite diagnosis, which is confirmed by genetic Analysis. Although the patient visited the hospital for epilepsy treatment, but the doctors dected a novel mutation in the TSC2 gene.

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10 Min ago

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Chris Hemsworth

10 Min ago

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Reply

Chris Hemsworth

10 Min ago

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