Pituitary

Cerebral Gigantism

search

Cerebral Gigantism, Soto Syndrome

  • Epidemiology
  1. Age: Young children
    1. Onset in the first few years of life
  • Pathophysiology
  1. Genetic mutation (typically sporadic, e.g. NSD1)
  • Signs
  1. Tall Stature
  2. Prominent forehead
  3. Hypertelorism (wide set eyes)
  4. High arched Palate
  5. Large irregular head
  6. Antimongoloid slant of palpebral fissures
  7. Intellectual Disability
  8. Advanced Bone Age
  • Labs
  1. See Tall Stature
  2. Lab results are normal in this condition
  • Imaging