Approaching patient presenting with ANAEMIA is a common scenario and CBC result is usually given in the scenario.

We need to work out by using investigation based approach. MCV is the key in considering likely causes of anaemia.

Questions that should be asked will vary greatly between patient with low MCV, normal MCV and high MCV.

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This is a frequently appeared case in PACES exam. This can be linked with many symptoms and presentations.

If this patient presented to you with high blood pressure, what are possible etiologies?

This is obviously Neurofibromatosis.

When neurofibromatosis patient presents with hypertension,

First consider association -
1. Renal artery stenosis (check renal bruit)
2. Pheochromocytoma (check proxysmal attack of raised BP together with other sympathetic overactivity symps)
3. Coarchtation of aorta ( check radiofemoral delay and radioradial delay)

But always bear in mind hypertension in neurofibromatosis patients can be due to usual and common causes like essential hypertension, drug induced, thyroid problem, OSA, etc.

If this neurofibromatosis patient has walking difficulty, what will you consider?

When neurofibromatosis patient presented with walking difficulty

Possible reasons
1. Acoustic neuroma (CPA tu) causing cerebeller ataxia - check HA, increased ICP, 5th, 6th, 7th and 8th CN palsy, cerebeller signs and gait
2. Neurofibromas pressing on spinal cord or peripheral nerves causing limb weakness - check motor and sensory examination of limbs
3. Severe peripheral neuropathy causing charcot joint - check deformed swollen unstable joint
4. Optic gliomas causing vision problem with resultant walking difficulty - check vision and fundoscopy

Examine gait, motor and sensory examination of lower limb, cerebeller signs, CN, joint swelling, vision

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