Abstract
We present a rare neonatal case of tuberous sclerosis complex (TSC) associated with sacrococcygeal chordoma. A male infant was found to have a sacrococcygeal tumor at birth. Then, he was diagnosed as having TSC from various imaging examinations that demonstrated other multiple tumors of the brain, heart and mediastinum. During the neonatal period, we excised the sacrococcygeal tumor invading the spinal canal, and an intracranial tumor was removed at the age of 5 months. Pathologically, both tumors were identified as chordomas, and a germline TSC2 mutation of these tumors was proved by heterozygosity analysis. At the age of 4 years, tumors of the heart and mediastinum decreased in size without local recurrence and he is presently being followed up in our hospital.
