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Journal of Child Neurology
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Multiple Cardiac Rhabdomyomas as a Sole Symptom of Tuberous Sclerosis Complex

Case Report With Molecular Confirmation

Sergiusz Józwiak, MD,PhD

Department of Neurology, The Children's Memorial Health Institute, Warsaw, Poland, s.jozwiak{at}czd.waw.pl

Dorota Domanska-Pakiela, MD, PhD

Department of Neurology, The Children's Memorial Health Institute, Warsaw, Poland

David J. Kwiatkowski, MD,PhD

Department of Medicine, Brigham and Women's Hospital, Boston, MA

Katarzyna Kotulska, MD

Department of Neurology, The Children's Memorial Health Institute, Warsaw, Poland

We report a child in whom multiple cardiac rhabdomyomas were identified on routine fetal ultrasonography. Molecular genetic studies identified the TSC2 gene missense mutation (E36; 4672 G>A, 1558 E>K TSC2). Both general and neurodevelopment of the patient have been normal. When last examined at age 6 years, he had no skin manifestations of tuberous sclerosis complex. Computed tomography of the brain revealed two periventricular calcifications consistent with the molecular diagnosis. This is the first report of molecularly confirmed tuberous sclerosis complex in a child with multiple cardiac rhabdomyomas and no other clinical manifestations of the disease. We propose that all cases of multiple cardiac rhabdomyomas in an infant be given a tentative diagnosis of tuberous sclerosis complex. (J Child Neurol 2005;20:988—989).

Journal of Child Neurology, Vol. 20, No. 12, 988-989 (2005)
DOI: 10.1177/08830738050200121101
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Home page
 J Child NeurolHome page
A. N. Datta, C. D. Hahn, and M. Sahin
Clinical Presentation and Diagnosis of Tuberous Sclerosis Complex in Infancy
J Child Neurol, March 1, 2008; 23(3): 268 - 273.
[Abstract] [PDF]