Eponymous Syndromes

Rett Syndrome

  • pervasive developmental disorder,
  • thought to be x-linked
  • Boys die in utero.
  • Motor delay and poor eye contact followed by hand wringing and breath holding.


  • Repeated presentation to hospital
  • Symptoms and history are false
  • No apparent secondary gain except assuming the role of the patient

Cavallo’s Sign

  • The pansystolic murmur of tricuspid Regurgitation is louder in inspiration (remember right heart lesions are louder in inspiration – it’s right to be an inspiration!!)

Alport’s Syndrome

  • Inherited condition
  • Sensorineural deafness (developing in early adulthood)
  • and renal dysfunction
  • The vibrations of living by an Airport give shake youre kidneys and you go deaf from the sound

Padget’s Disease

  • Faulty cellular remodelling of bone
  • Bones slowly become fragile and misshapen
  • Pelvis skull spine and legs
  • can effect bones of inner ear and causing conductive deafness

Pendred’s Syndrome

  • Genetic
  • Bilateral sensorineural deafness
  • Goitre
  • Euthyroid or mild hypothyroid

Reiter’s Syndrome

  • Reactive artrhirits
  • Urethritis
  • Arthritis
  • Iritis/uveitis

Kleinfelter’s Syndrome

  • 47 XXY
  • most common cause of male hypogonadism
  • Symptoms often subtle so diagnosis can be missed

Wilson’s Disease

  • Autosomal Recessive
  • Abnormal copper metabolism
  • Excess copper deposition
    • Brain – causing ataxia
    • Liver – causing cirrhosis
    • Eye – causing Kayser-Fleischer rings around the periphery of iris

Zollinger-Ellison Syndrome

  • Peptic Ulcer + gastrin-secreting pancreatic adenoma = Z-E Syndrome
  • 50-60% of these adenomas are malignant
  • It’s approx 1% of Patients with duodenal ulcers
  • Suspect it in those who have multiple peptic ulcers which are resistant to treatment

Turner’s Syndrome

  • 45XO
  • short stature
  • neck webbing
  • wide carrying angle
  • poor pubertal development
  • primary amenorrhoea

Kallmann’s Sydrome

  • Hypogonadotrophic hypogonadism
  • Due to failur of GnRH neurone of the hypothalamic pituitary axis

Lhermitte’s Syndrome

  • Pain and paraesthesia in limbs on neck flexion (happens in Multiple Slcerosis)

Uhthoff’s Phenomenon

  • worsening vision with increased body temp – seen in optic neuritis

Todd’s Palsy

  • Focal CHS signs (eg hemiplegia) following and epileptic seizure
  • The patient seems to have had a stroke but recovers in less than 24hours