A 2-year-old boy presents with infantile spasms and developmental regression. Vital signs show HR 110 bpm, BP 95/58 mmHg, RR 22/min, temp 37.2°C, SpO2 98%. Physical examination reveals facial angiofibromas and multiple hypopigmented ash-leaf spots on the trunk. Brain MRI demonstrates subependymal nodules and cortical tubers. Serum glucose and electrolytes are normal. There is no family history of seizures. Which intracellular signaling pathway is dysregulated in this disorder?
- A)NF kappa B activation by Epstein Barr virus
- B)MAP kinase signaling through RAS activation
- C)Wnt beta catenin signaling due to APC loss
- D)BCR ABL tyrosine kinase signaling
- E)mTOR signaling due to loss of hamartin tuberin functionGABARITO
Explicação
mTOR signaling due to loss of hamartin tuberin function is correct. Tuberous sclerosis results from mutations in TSC1 or TSC2, leading to disinhibition of mTOR and formation of widespread hamartomas. Ash leaf spots, facial angiofibromas, seizures, and subepend... Ver explicação completa e trilha adaptativa →