Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics

Lancet Neurol. 2013 Apr;12(4):381-93. doi: 10.1016/S1474-4422(13)70024-3. Epub 2013 Mar 18.


Historically, the midbrain and hindbrain have been considered of secondary importance to the cerebrum, which has typically been acknowledged as the most important part of the brain. In the past, radiologists and pathologists did not regularly examine these structures-also known as the brainstem and cerebellum-because they are small and difficult to remove without damage. With recent developments in neuroimaging, neuropathology, and neurogenetics, many developmental disorders of the midbrain and hindbrain have emerged as causes of neurodevelopmental dysfunction. These research advances may change the way in which we treat these patients in the future and will enhance the clinical acumen of the practising neurologist and thereby improve the diagnosis and treatment of these patients.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Animals
  • Diagnostic Imaging / trends*
  • Humans
  • Mesencephalon / abnormalities*
  • Mesencephalon / pathology*
  • Rhombencephalon / abnormalities*
  • Rhombencephalon / pathology*