]> 2026-07-31T09:41:40+00:00 WBR0685 0 en Cardiac rhabdomyoma Cardiac rhabdomyomas are associated with tuberous sclerosis. Pheochromocytoma Pheochromocytomas are associated with MEN II syndromes, von Hippel Lindau, Sturge-Weber syndrome, and neurofibromatosis type 1 Iris hamartoma Iris hamartomas are associated with neurofibromatosis type 1. Accoustic schwannoma Bilateral accoustic schwannomas are seen in patients with neurofibromatosis type 2. Hemangioblastoma Hemangioblastomas are associated with von-Hippel Lindau disease. The patient in this scenario is most likely presenting for clinical manifestations of tuberous sclerosis (TS). In its inherited form, TS is an autosomal dominant disorder, however, the majority of cases are sporadic due to spontaneous mutations in TSC1 or TSC2 genes. TS is characterized by facial angiofibromas, hypopigmented ash leaf spots on the skin, cortical and retinal hamartomas, seizures, mental retardation, renal angiomyolipomas, cardiac rhabdomyomas, and astrocytomas. Not all findings are present in all patients with TS, and symptoms may not manifest very early on in life in some patients. Diagnosis of TS is clinical and does not require genetic confirmation. Most patients require imaging to identify complications of the syndrome. Treatment is symptomatic only with most patients requiring antiepileptics to prevent seizures.<br/> '''Educational Objective:''' Cardiac rhabdomyomas are associated with tuberous sclerosis.<br/> '''References:''' Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355(13):1345-56. First Aid 2015 page 236 Pathology A 22-year-old man with mental retardation and a history of seizures presents to the physician's office with several papulonodular lesions on the face. He explains that the lesions have been present since childhood, but have been slowly increasing in size. Physical examination is remarkable for well-demarcated hypopigmented lesions on his right lower extremity and his back. Biopsy of the facial lesions is consistent with angiofibroma. Which of the following is most likely to be an additional finding in this patient? A Neurology 2020-10-28T01:24:58Z 2459150.5590046 WBR0685