CME INDIA Case Presentation by Dr Prabhat Kumar Agarwal, Agra.
CME INDIA Case Study
Q: Patient is mentally retarded and now present with altered sensorium.
Responses:
Dr Ravishankar Dwivedi Dermatologist, Ranchi: Tuberous sclerosis, Epilepsy, Low IQ, Adenoma sebaceum classical triad of Tuberous sclerosis. EPILOIA
Dr sampath Kumar DM Neuro, Erode: Tuberous sclerosis, Adenoma sebaceum
CT readily depicts calcified cortical tubers and calcified subependymal nodules; the frequency of their calcification increases with patient age.
Dr Rajkamal Chaudhary, Asso.Prof Med Bhagalpur: What did the patient present with, usually Non Malignant. Seen the last case in Dr K K Sinha Ranchi in 1986 since than non. Usually the patient presents with Epilepsy and Tumor in Brain and Heart.
Dr Rajneesh Tyagi Phy, Noida,UP: Adenoma sebaceum, Tuberous sclerosis.
Dr. Sivani lakshmi. Kurnool Andhra Pradesh: Adenoma sebaceum.
Dr Apoorva Jain, Agra, Dr Ranjeet, Ramgarh: Tuberous sclerosis(TSC).
CME INDIA Learning Points:
- It is a rare, multi-system genetic disease that causes non-cancerous (benign) tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin.
- Usually affects the central nervous system and can result in a combination of symptoms including seizures, impaired intellectual development, autism, behavioral problems, skin abnormalities, and kidney disease.
- Many people with TSC show evidence of the disorder in the first year of life. However, clinical features can be subtle initially, and many signs and symptoms take years to develop. As a result, TSC can be unrecognized or misdiagnosed for years.
- The name tuberous sclerosis comes from the characteristic tuber or potato-like nodules in the brain, which calcify with age and become hard or sclerotic.
- All races and ethnic groups, and in both genders affected.
Diagnosing TSC is based upon clinical criteria. The first clue may be the presence of seizures or delayed development. In other cases, the first sign may be white patches on the skin (hypomelanotic macules) or the identification of cardiac tumor rhabdomyoma.
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Nice discussion