Miller-Fisher Syndrome: features
ophthalmoplegia + ataxia + areflexia
Miller-Fisher Syndrome: antibody
anti-GQ1b
Miller-Fisher Syndrome: treatment
IV Ig
anorexia nervosa > non-thyroidal illness syndrome
low T3 - no treatment required
Wilson’s disease: 4 clinical manifestations
neurological features (bradykinesia, rigidity, tremor) + hepatic dysfunction + psychiatric manifestations + Kayser-Fleischer rings
Wilson’s disease - treatment
penilcillamine
pulmonary arterial hypertension - gold standard diagnosis
right heart catheterization
pulmonary arterial hypertension - treatment
endothelin receptors antagonist (bosentan)
hypertrophic pulmonary osteoarthropathy - 3 features
digital clubbing + periostitis + painful arthropathy
confusion + ataxia + oculomotor dysfunction
Wernicke’s encephalopathy
Wernicke’s encephalopathy - acute management
IV thiamine
MEN1
anterior pituitary gland + pancreas + parathyroid
anterior pituitary gland + pancreas + parathyroid
MEN1
MEN2A
medullary thyroid carcinoma + pheochromocytoma + parathyroid
medullary thyroid carcinoma + pheochromocytoma + parathyroid
MEN2A
MEN2B
medullary thyroid carcinoma + pheochromocytoma + mucosal neuromas + marfanoid habitus
medullary thyroid carcinoma + pheochromocytoma + mucosal neuromas + marfanoid habitus
MEN2B
acute hepatic encephalopathy - initial management
lactulose
first-line management of HCM
beta-blocker
café-au-lait spot + neurofibromas + axillary/inguinal freckles + Lisch nodules
neurofibromatosis type 1
bilateral vestibular schwannoma - think of…
neurofibromatosis type 2
blue sclera + recurrent fractures + poor dentition + osteoporosis + hearing loss
osteogenesis imperfecta
seizures + hypopigmented spots + facial angiofibromas
tuberous sclerosis
tuberous sclerosis
seizures + hypopigmented spots + facial angiofibromas