Cardiac Rhabdomyoma: A Surrogate Diagnosis of Tuberous Sclerosis Complex in a Newborn Baby: Case Report from Tikur Anbessa University Hospital

Abstract

Background: Neonatal tuberous sclerosis complex is an autosomal dominant inherited disease characterized by high rate of neurological, cardiac and skin manifestations. Case Presentation: We reported a 4 days old female neonate with respiratory distress, tachypnea, tachycardia and hypomelanotic macular lesions. Her chest X-ray and echocardiographic studies revealed cardiomegaly and multiple echogenic masses in the left and right ventricles, suggestive of cardiac rhabdomyoma. Furthermore, non-contrast brain magnetic resonance imaging revealed sub-ependymal nodules and cortical tubers. Therefore, a clinical diagnosis of neonatal tuberous sclerosis complex with heart failure was made. Then, the patient was initiated on diuretic treatment with oxygen by nasal catheter with subsequent improvement. Seizure was not occurred yet in the last three and half years of follow-up. Currently, the patient is thriving well with no symptoms. Conclusion: Detection of prenatal or early neonatal age, cardiac rhabdomyoma is a useful clue to the diagnosis of tuberous sclerosis complex in neonates. Proper clinical evaluation of patients at the time of first contact prevents missing of findings such as skin macules and chest X-ray findings, which helped us to diagnose tuberous sclerosis complex in the present case.