Station 5 (Rheum etc)

Question 1

Myasthenia gravis

Answer 1

Acquired AI disorder - abs to post synaptic ACh receptor of NMJ

• Thymus involvement -> thymectomy
• Young women or >50yr men
• Muscle weakness and fatiguability
• Extraocular (complex ophthalmo, ptosis, diplopia) -> bulbar -> facial -> neck -> limbs -> trunk
• Bilateral fatiguable partial ptosis,

Question 2

Features of Horners syndrome

Answer 2

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Question 3

Causes of Horners syndrome

Answer 3

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Question 4

Noonans

Answer 4

AD, both male and female

• short stature
• pectus excavatum
• sign of deranged clotting
• face: broad face, webbed neck, ptosis, wide set eyes, low set ears
• CV: congenital abnormality such as PS, ASD, HCM

Question 5

Osteogenesis imperfecta

Answer 5

• AD
• Blue sclera (ddx - Marfans, Ehlers Danlos) and tooth discolouration
• hearing aid (otosclerosis)
• previous fracutres, long bones bowed
• hernias
• CV: AR

Question 6

Marfans

Answer 6

Stretch skin, lax, wrinkled
Tissue paper scars
Joint hypermobility
Bleeding

Question 7

Thyroid goitre

Answer 7

• pulse ?tachy ?brady
• cool/sweaty
• thyroid nail changed
• Grave eye disease -> eye movements, lid lag, check for exophthalmos
• palpate for nodules/goitre, swallow on palpating
• percuss for retrosternal goitre
• bruits

Question 8

Myotonic dystrophy

Answer 8

AD, dysphagia, diabetes, IQ, cardiac failure (cardiomyopathy), cardiac conduction block (regular ECG)

Face: ptosis, expressionless face, masseter/temporalis wasting, frontal balding, smooth forehead, cataracts/uneven pupils post surgery

Other: myotonia (slow release grip, difficulty opening eyes after forced closing), weak SCM, percussion myotonia over thenar eminence, reduced reflexes, weak limbs (distally initially)

GU: gynaecomastia, testicular

Question 9

Myotonic dystrophy

Answer 9

AD, dysphagia, diabetes, IQ, cardiac failure (cardiomyopathy), cardiac conduction block/PPM (regular ECG)

Face: ptosis, expressionless face, masseter/temporalis wasting, frontal balding, smooth forehead, cataracts/uneven pupils post surgery

Other: myotonia (slow release grip, difficulty opening eyes after forced closing), weak SCM, percussion myotonia over thenar eminence, reduced reflexes, weak limbs (distally initially)

GU: gynaecomastia, testicular

Question 10

DDx of ptosis

Answer 10

Myasthenia gravis (BL)
Myotonic dystrophy (BL) 
3rd CN palsy
Horners
Syringomyelia
Oculopharyngeal MD (BL)
Chronic progression external ophthalmoplegia (CPEO) - associated with Kearns-Sayer i.e. mitochondrial disease (BL)