Tuberous sclerosis is characterized by HAMARTOMASS [Hamartomas in CNS and skin, Angiofibromas , Mitral regurgitation, Ash-leaf spots , cardiac Rhabdomyoma, (Tuberous sclerosis), autosomal dOminant; Mental retardation (intellectual disability), renal Angiomyolipoma , Seizures, Shagreen patches, FA2020 p525]
If you didn't know what hamartomas look like (i.e. me), here is a picture of what they were describing. They also describe seizures, subependymal calcified nodules (likely hamartomas of the CNS), and a cardiac mass, which is likely a rhabdomyoma. These are characteristic of Tuberous Sclerosis.
Wrong answer explanations:
Familial hypertrophic cardiomyopathy is associated with sudden death in athletes, not seizures and hamartomas.
Gardner Syndrome is also called familial colorectal polyposis and is a form of familial adenomatous polyposis.
Glycogen storage disease Type I is Von Gierke disease, which presents with hepatosplenomegaly and severe fasting hypoglycemia typically in infancy.
Multiple Endocrine Neoplasia Type I is associated with all the P's -> Pancreatic, Parathyroid, and Pituitary (pancreatic endocrine tumors, parathyroid adenomas, and pituitary tumors)
submitted by โcassdawg(1780)
Tuberous sclerosis is characterized by HAMARTOMASS [Hamartomas in CNS and skin, Angiofibromas , Mitral regurgitation, Ash-leaf spots , cardiac Rhabdomyoma, (Tuberous sclerosis), autosomal dOminant; Mental retardation (intellectual disability), renal Angiomyolipoma , Seizures, Shagreen patches, FA2020 p525]
If you didn't know what hamartomas look like (i.e. me), here is a picture of what they were describing. They also describe seizures, subependymal calcified nodules (likely hamartomas of the CNS), and a cardiac mass, which is likely a rhabdomyoma. These are characteristic of Tuberous Sclerosis.
Wrong answer explanations: