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Case ID: 1
Created: 11 April 2008

Inspect this gentleman and proceed.



     For MRCP PACES skin station, this is a popular case. I think every candidate will pick up the diagnosis. Yes, you are right- this gentleman has Neurofibromatosis type 1 ( von Recklinghausen's disease). You must have two or more of the following to diagnose Neurofibromatosis type 1,

arrow six or more cafe-au-lait spot,
arrow two or more neurofibromas or one plexiform neurofibroma,
arrow freckling in the axilla or inguinal region ( Crowe's sign),
arrow optic glioma,
arrow two or more Lisch nodule ( iris hamartoma),
arrow a distinctive osseous lesion such as sphenoid dysplasia or thining of long bone cortex with or without pseudoarthroses,
arrow family history,

( Reference: 250 cases in Clinical Medicine by RR Baliga)

As you can see from the above criteria, when you are dealing with a case of Neurofibromatosis, always show to the examiners that you know what physical signs to look for. After a general inspection, I would suggest you to look specifically for cafe-au-lait spot and look at the patient's axilla and inguinal region for freckling.


Frankly speaking, I have never seen an optic glioma in my life, however, always show your interest and try to look at patient's eyes because you might find Lisch nodule. The following picture shows the typical Lisch nodule appearance.


Later, you must suggest to examiners that you would like to take a full family history becuase Neurofibromatosis is a congenital disorder.You always suggest that you would like to order MRI to look for optic glioma.

You also would like to examine patient's lower limbs because you might find bowed leg and pseudoarthrosis of the tibia. Suggest to examiners that you would like to asses the mental status (IQ) of the patient and ask history about previos seizure. Last but not least, measure your patient's blood pressure.

The following picture summarizes all features that you would like to look for in Neurofibromatosis type 1,


Diagnosis: This gentleman has Neurofibromatosis Type 1

Common questions examiners would ask you,

1) What is the inheritance pattern of this disease?

2) What are the possible complications of this illness?

3) How do you manage this gentleman ?

4) What is your advice if this gentleman is going to get married?

Extra points:

1) Learn more about Neurofibromatosis at

Neurofibromatosis Association of UK

Case ID:2
Created: 11 April 2008

Interesting Images in Clinical Medicine

MRCP-blood film

Case Summary:

    This lady presents with fever for 2 weeks. What is the diagnosis? Start your discussion with other PassPACES users in our Forum!  

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