Eponomous syndromes

Question 1

Gitlemans syndrome

Answer 1

Familial hypokalaemia-hypomagnesemia, is a rare genetic disorder of kidney physiology. The kidney’s ability to reabsorb salts causes changes in electrolyte concentrations and contraction of extracellular fluid volume (causing symptoms of dehydration). The electrolytes affected are primarily potassium, magnesium, and calcium (low, low, high). Most cases of Gitelman syndrome are caused by mutations in the SLC12A3 gene and are inherited in an autosomal recessive manner.

Question 2

What is Bechets disease?

Answer 2

• Autoinflammatory disease of the arteries and veins of all sizes.
  
  • Often present with oral aphthous ulcers ( x 3 in 12 months) + 2 of:
    ○ Occular inflamation
    ○ Genital ulcers
    ○ Pathergy reaction
    ○ Skin lesions - pustules, erythme nodosum
  • Treatment is with colchicine and steroids.
  • Associated with venous thromboses

Question 3

What is Gerstman syndrome?

Answer 3

Inferior parietal lobule of the dominant hemisphere stroke.
Agular and supraarginal gyri near the temporal parietal junction

Symptms:
- Dysgraphia/agraphia
- Dyscalculia/acalculia
- Finger agnosia
Left-right disorientation