A 4-year-old boy had a history of intellectual disability and seizure is brought to doctor with a month of history of shoness of breath. On physical examination, doctor notices numerous papule on boy face. Echocardiography shows tumor like growth in left ventricle. Which of the following is the most likely diagnosis for this patient hea condition?
Tuberous sclerosis is a autosomal dominant condition characterized by development of hamaomas and benign neoplasms involving the brain and other tissues. The most frequent clinical manifestations are seizures, autism,and mental retardation. Hamaomas within the CNS take the form of coical tubers and subependymal nodules; subependymalgiant-cell astrocytoma's. Half of patient with tuberous sclerosis develop rhabdomyomas, primary tumors of cardiac muscle that, although benign, may compromise cardiac function. They may be found on atrioventricular valves or on ventricle walls, causing outflow obstruction. The nuclei of the rhabdomyoma cells are central or eccentrically located. In some cells, eosinophilic septa stretch from the cell membrane to a centrally placed nucleus, impaing a spiderlike appearance to the cell known as 'spider cells' Spider cells are pathognomonic for cardiac rhabdomyomas and they represent degenerating rhabdomyocytes. image showing spider cells Myxoma are almost exclusively seen in adults and usually located in the atria, making this a less likely diagnosis. Dilated cardiomyopathy involves hyperophy and dilation and eventually hea failure and is not associated with tuberous sclerosis. Lipoma can create ball valve obstruction and with history suggesting tuberous sclerosis, lipoma is less likely.
Lipoma
Myxoma
Rhabdomyoma
Dilated cardiomyopathy
Systemic Pathology