Clincial Conditions Flashcards
What is spina bifida?
Birth defect caused by defect in caudal closure of the neural tube.
What is ancephaly? Is it compatible with life?
Birth defect with failure of the neural tube to close cranially. Not compatible with life as leads to absence of brain.
What is rachischisis? Is it compatible with life?
Failure of neural fold elevation, not compatible with life as neural tube doesn’t form.
What are the 2 types of spina bifida? Which is more severe?
Meningocele - cyst of fluid present at the gap in the spine, contains CSF and meninges.
Myelomeningocele - spinal cord also present in cyst at gap in spine, therefore is more severe.
What is hydrocephalus?
Accumulation of CSF in the brain.
What causes Foetal Alcohol Syndrome?
When neural cries migration is abnormal due to alcohol.
What is Di George Syndrome?
Failure of migration of neural crest cells in 3rd and 4th pharyngeal pouches, causing thyroid deficiency and thymus abnormality.
Caused by CATCH 22 mutation.
What is hemiballismus?
A very rare movement disorder caused by a decrease in activity of the subthalamic nucleus of the basal ganglia, resulting in increased movement and the appearance of flailing, ballistic, undesired movements of the limbs.
What is syringomyelia and how will it present?
Rare disorder when a cyst forms in the spinal cord that compresses and damages part of the spinal cord - if it affects C6-C8 segments, it will cause bilateral loss of temperature and pain in C6-C8 dermatomes.
What is ‘locked-in’ syndrome?
Thrombus in the pontine arteries (supply the pons) - leads to motor pathways being absent, but midbrain is unaffected - person can basically only blink.
