Eponymous conditions Flashcards
Waterhouse-Friderichsen syndrome
Adrenal insufficiency secondary to adrenal haemorrhage - complication of meningococcal meningitis
Lambert-Eaton syndrome
Associated with lung, breast and ovarian Ca
Antibody against calcium channels in PNS
Limb girdle weakness (lower limbs first)
Charcot-Marie-Tooth
Most common hereditary peripheral neuropathy - mainly motor loss
Goodpasture’s syndrome
Anti-glomerular basement membrane disease affecting kidneys and lungs
Haemoptysis
Systemically unwell
Glomerulonephritis
Sheehan’s syndrome
Pituitary gland damaged through severe blood loss during labour
Cause of secondary amenorrhoea
Asherman’s syndrome
Intrauterine adhesions
Cause of secondary amenorrhoea
Meigs’ syndrome
Benign ovarian tumour causing ascites and pleural effusion
Usually caused by fibroma
Patau’s syndrome
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
Edward’s syndrome
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping fingers
Fragile X
LD
Macrocephaly
Long face
Large ears
Macro-orchidism
Noonan’s syndrome
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
Pierre-Robin syndrome
Micrognathia
Posterior displacement of tongue
Cleft palate
Prader-Willi syndrome
Hypotonia
Hypogonadism
Obesity
William’s syndrome
Short stature
LD
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
Cri du chat syndrome
Characteristic cry
Feeding difficulties, poor weight gain
LD
Microcephaly and micrognathism
