Tuberous sclerosis with cardiac rhabdomyoma: a case report

Sunita Arora; Harnoorjit Kaur Brar; Prabhjot Kaur Dhillon

doi:10.18203/2349-3291.ijcp20170730

Authors

Sunita Arora Department of Pediatrics, SGRDIMSR, Amritsar, Punjab, India
Harnoorjit Kaur Brar Department of Pediatrics, SGRDIMSR, Amritsar, Punjab, India
Prabhjot Kaur Dhillon Department of Pediatrics, SGRDIMSR, Amritsar, Punjab, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20170730

Keywords:

Infantile spasms, Neuro-cutaneous, Rhabdomyoma

Abstract

Tuberous sclerosis or tuberous sclerosis complex (TSC) is a genetic disorder, caused by mutations on either of two genes TSC1 and TSC2. Clinical manifestations are caused by growth of benign tumours in different parts of the body. Ten months old female child with four major criteria of tuberous sclerosis complex and asymptomatic cardiac rhabdomyoma is presented. A case of TSC warrants cardiac evaluation for the presence of cardiac rhabdomyoma and if a cardiac rhabdomyoma is detected on antenatal ultrasound or postnatal echocardiography, one should have high index of suspicion for the diagnosis of TSC. Continued research on this disease has unfolded many realities regarding its etiology as well as treatment.

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