Clinical course and diagnosis
A 7-month-old boy was referred to our hospital for multiple cutaneous nodules. At the fifth month, cutaneous nodules first appeared behind the right ear without evident cause or tenderness and gradually growth multiple nodules. During consultation in our department, physical examination showed multiple nodules on the scalp, eyelids, trunk, and limbs of the patient which are papules or yellow and erythematous nodules without inflammation or ulceration (Figs. 1A-B). He had one hypomelanotic macule on the abdomen (Fig. 1B). One week before birth, examination revealed a strong echo mass in the heart of the fetus (patient), indicating cardiac rhabdomyoma. A regular follow-up to observe changes of cardiac rhabdomyoma was recommended.
Brain computed tomography (CT) showed multiple punctate, flaky, and round-like high-density holes in the bilateral lateral ventricles and bilateral subependymal. A large lesion (51 mm × 46 mm) located in the posterior corner of the left lateral ventricle was diagnosed as SEGA (Fig. 2A). Head magnetic resonance imaging (MRI) showed nodules in the posterior corners of bilateral ventricles on T1- and T2-weighted images (Figs. 2B–C). Chest CT showed pulmonary subpleural nodule in the lower left lobe (Fig. 2D). Cardiac ultrasound showed cardiac rhabdomyoma in the left ventricular cavity which was approximately 15 mm × 12 mm. Abdominal ultrasonography was normal. Ophthalmologic evaluation was not performed because the patient was too young to cooperatate. On laboratory blood tests the patient had normal lipid. He had no facial angiofibromas, shagreen patches or seizures and the development was normal.
The patient’s mother had seizures since four years old. During pregnancy, she took lamotrigine and valpromide tablets but still had seizures every month. She had multiple skin lesions, including hypomelanotic macules, shagreen patches, and facial angiofibromas. The patient’s uncle had seizures and died of “brain tumor” at the age of 25 years. The patient’s grandfather had hypomelanotic macules, shagreen patches and facial angiofibromas.
We performed biopsy of cutaneous nodules. Paraffin block tissue and whole blood samples were collected from existing family members to obtain genomic DNA for whole-exome sequencing.
The diagnosis was made by at least two experienced specialists based on the 2012 TSC Consensus Conference updated diagnostic criteria(6). We obtained written consent from parents. This study was approved by the Ethics Committee of Chinese PLA General Hospital (Beijing, China).