Guillain-Barre Syndrome

Guillain-Barré Syndrome (GBS) Definition: an acute, predominantly motor, inflammatory demyelinating polyneuropathy Aetiology/ risk factors: -occurs a few weeks (1-3) after an infection e.g. Camylobacter jejuni (from undercooked chicken) CMV, mycoplasma, herpes zoster, HIV, EBV post-vaccinations -may occur with lymphoma or Hodgkin's disease -infective trigger causes antibodies which react with self-antigen on myelin or neurones -no cause found in 40% (idiopathic) … Continue reading Guillain-Barre Syndrome

Myasthenia Gravis

Myasthenia Gravis Definition: an autoimmune disease affecting the neuromuscular junction producing weakness of skeletal muscles Aetiology/ risk factors: -Mediated by autoantibodies against the nicotinic acetylcholine receptors (AChR), interfering with the neuromuscular transmission via depletion of working post-synaptic receptor sites. -Both B and T cells are implicated. Associations: < 50 years- women, other autoimmune diseases, thymic … Continue reading Myasthenia Gravis

Huntington’s Disease

Huntington's Disease Definition: incurable, progressive, autosomal dominant neurodegenerative disorder characterised by progressive chorea and dementia, typically commencing in middle age. Aetiology/ risk factors: -Genetic, autosomal dominant = extensive expansion of CAG repeat on chromosome 4, huntingtin gene which codes for the protein huntingtin = toxic gain of function of protein -Leads to atrophy and neuronal loss of striatum … Continue reading Huntington’s Disease

Epilepsy

Throwback to when I pretended to be a worried parent whose child had just had a seizure for the mock clinical exams of the older year students. My performance was flawless.  I really enjoy pretending to be a patient, for some unexplainable reason. Even as a kid, I was always the patient. For this one, my … Continue reading Epilepsy

Horner’s Syndrome

I'm pretty sure I get this when I haven't slept enough... Horner's Syndrome Definition: a triad of miosis, partial ptosis + apparent enophthalmos, and anhidrosis. Aetiology/ risk factor: -Interruption of sympathetic innervation of the face. Anatomy: -1st order central sympathetic fibres from the posterolateral hypothalamus ⇒ descend through midbrain and pons ⇒ terminate in the … Continue reading Horner’s Syndrome