Rare Diseases/Syndromes Flashcards
What is Gardner’s syndrome?
Familial colorectal polyposis multiple polyps in the colon with tumours on the outside
What is Guillain-Barre syndrome?
Autoimmune condition with targeting of healthy nerve cells in Peripheral nervous system commonly caused by infection
What is Pancoast’s syndrome?
Apical lung cancer + Horner’s Syndrome caused by invasion to cervical sympathetic plexus
What is Horner’s Syndrome?
- Damage to a certain pathway in the sympathetic nervous system.
- Miosis - constricted pupil
- Partial ptosis
- Loss of hemifacial sweating
What is Epstein-Barr Virus?
- Human Herpes virus 4
- Causes glandular fever - infectious mononucleosis
What is Steven Johnson Syndrome?
- Over-reaction of the immune system to a trigger such as a mild infection or a medicine, leading to blistering and peeling of the skin and surfaces of the eyes, mouth and throat
What is Zollinger-Ellison Syndrome?
- Gastrin secreting tumour that cause recurrent peptic ulcers
- Gastrinoma usually in duodenum or pancreas
- Gastrin stimulates production of gastric acid
What are the signs of Patau’s?
- Severe mental retardation
- Microcephaly
- Craniofacial features including cyclopia, cleft palate
- Holoproscencephaly - failure of cleavage of the embryonic forebrain
What are the signs of Edward’s?
- IUGR
- Small elongated head - strawberry on USS
- Rocker bottom feet
What is Asherman’s syndrome?
- Scar tissue/adhesion formation in the uterus/cervix
What is Reiter’s syndrome?
- Complication of chlamydia
- HLA-B27
- Presents as a triad of:
1. arthritis in one major joint
2. urethritis or cervicitis in women
3. uveitis/conjunctivitis
What is Fitz-Hugh Curtis syndrome?
Rare complication of PID
Inflammation spreads to Glisson’s capsule around the liver
Peri-hepatitis
What is Sheehan’s Syndrome?
Ppostpartum pituitary gland necrosis
Hypopituitarism caused by ischaemic necrosis due to blood loss and hypovolemic shock during and after childbirth.
What is Sandifer’s syndrome?
Episodes associated with dystonic neck movements
What is Eisenmenger’s syndrome?
- Right-sided HF in baby - needs transplant
- The reversal of a left-to-right shunt in a congenital heart defect due to pulmonary hypertension.
- This occurs when an uncorrected left-to-right leads to remodelling of the pulmonary micro-vasculature, eventually causing obstruction to pulmonary blood and pulmonary hypertension.
