MRI findings of tuberous sclerosis complex combined with cardiac rhabdomyomas in fetuses and infants

Abstract

Objective To improve the understanding,the incidence and imaging findings of tuberous sclerosis complex (TSC) combined with cardiac rhabdomyomas (CRs) in fetuses and infants.Methods The imaging findings of 9 infants with TSC combined with CRs and 4 fetuses with TSC combined with CRs from our hospital between June,2006 and November,2013 were retrospectively reviewed.Results The brain MRI of 9 with TSC combined with CRs showed bilateral subependy-mal nodules,subcortical white matter and cortical tubers.Subependymal nodules were isointense or hypointense on spin-echo T1WI and hypointense or hyperintense on spin-echo T2WI.Subcortical white matter and cortical tubers were hypointense or hyperintense on T1WI and hypointense or hyperintense on T2WI.There was varying contrast enhancement.Three of 9 infants presented single cardiac tumor and 6 of 9 infants presented multiply cardiac lesions.CRs on contrast cardiac MRI showed round solid masses in ventricular septums,ventricular outflow tract,ventricle or atrial free walls.The masses were isointense relative to the cardiac muscles on T1WI,T2WI and B-TFE sequence.There was varying contrast enhancement.Four fetuses with TSC on ultrafast MRI showed bilateral multiply subependymal nodules,the nodules were isointense or hyperintense on TFE T1WI and isointense or hypointense signals on SSTSE or B-FFE sequence,Four fetuses with CRs showed isointense to hyperintense solid masses in ventricular septums on ultrafast MRI,ventricle or atrial free walls on B-FFE sequence and SSTSE sequence images.Conclusions TSC in infant and fetus is a kind of neurocutaneous syndrome,usually combines with CRs.Fetal ultrafast and routine MRI is a useful method to make a definite diagnosis for cranial and cardiac lesions.The development of MRI might improve the timeliness and accuracy of the assessment for this disease. Key words: Tuberous sclerosis; Fetus; Infant; Rhabdomyoma