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Updated: May 9, 2026
09:21
Tumorsphere Derivation and Treatment from Primary Tumor Cells Isolated from Mouse Rhabdomyosarcomas
Published on: September 13, 2019
Tuberous sclerosis with rhabdomyoma.
V Ajay1, Vikram Singhal, Vardhelli Venkateshwarlu
1Department of Pediatrics, Kasturba Medical College, Manipal University, Mangalore, India.
Indian Journal of Human Genetics
|August 1, 2013
Summary
Tuberous sclerosis, a neurocutaneous syndrome, can affect the heart. This case highlights a 1½-year-old with infantile spasms and cardiac rhabdomyoma, linked to maternal neurocutaneous markers.
Area of Science:
- Neurology
- Cardiology
- Genetics
Background:
- Tuberous sclerosis is a genetic disorder causing tumors in various organs.
- It's a neurocutaneous syndrome affecting the skin and central nervous system.
- Cardiac rhabdomyomas are common in infants with tuberous sclerosis.
Observation:
- A 1½-year-old female presented with infantile spasms.
- The patient had a diagnosed rhabdomyoma in the heart.
- The mother exhibited neurocutaneous markers indicative of tuberous sclerosis.
Findings:
- Brain MRI and EEG confirmed neurological abnormalities consistent with tuberous sclerosis.
- The co-occurrence of infantile spasms, cardiac rhabdomyoma, and maternal markers strengthens the diagnosis.
- This case underscores the systemic nature of tuberous sclerosis.
Implications:
- Early diagnosis of tuberous sclerosis is crucial for managing associated conditions.
- Understanding the genetic basis aids in family screening and counseling.
- Comprehensive evaluation is necessary to detect multi-organ involvement in tuberous sclerosis.
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