PACES MRCP UK - Where MRCPians Meet Since 2006

MRCP is well establised as an entry exam for advanced specialist training in many countries including Malaysia. It consists of 3 paper i.e. Part1, Part2(written tests) and PACES. PACES in full means Practical Assessment of Clinical Examination Skills. It is the third part and the candidate is assessed by fellows of RCP. I passed my PACES in 2005. I am glad that many seniors had guided me throughout my preparation for PACES and I wish to share my experiences with PACES candidates via this blog.


Monday, May 29, 2006

Charcot-Marie-Tooth disease



This patient came for an elective investigation in neurology clinic today PM.

Scenario: 20-year-old, male with difficulty in walking for 8 years. Examine the LL.

Examination reveals LMN lesion. There is wasting of the lower limbs muscle. There is no fasciculation and the tone is reduced. The weakness involves predominantly the distal muscles. The extensors of the toes and feet are weak. The knee and ankle jerks are absent and the plantar reflexes show no response. The sensation to pin prick and propioception are preserved.

What do you want to examine next?


a. There is wasting of the small muscles of the hands.

b. He had bilateral foot-drop and high stepping gait.

c. Ask for a family history of similar problem.
Yes, his elder brother also has the similar condition.

Discussion
The diffential diagnosis that should be considered here are:
1. Peripheral neuropathy i.e. motor neuropathy
**Hereditary as suggested by 8 years history of onset and the age of presentation at 12 yo i.e. Charcot-Marie-Tooth ds (HMSN)
**CIDP unlikely because of no sensory involvement

2. Motor neuron disease - Unlikely
** Wrong age of presentation for MND
** No signs to suggest UMN lesion (mixed UMN+LMN)
** No fasciculation (Hallmark for MND)

3. Muscular dystrophy - Unlikely
** Pseudohypertrophy but not severe wasting
** Predominantly proximal wasting

Conclusion
The diagnosis is Charcot-Marie-Tooth disease.


Further questions
What is the investigation that is planned for him in neurology clinic?
How many types of HMSN do you know?
What is the inheritance pattern for this disease?

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4 Comments:

At 5/30/2006 08:48:00 PM, Blogger E.coli said...

The legs do not look like "inverted champagne bottles"?

 
At 5/30/2006 09:01:00 PM, Blogger eMRCPian said...

Not well exposed. I had to admit that the quadriceps are wasted. However, the weakness predominantly involve the distal muscles.

 
At 5/31/2006 02:11:00 PM, Blogger santa007 said...

What is the investigation that is planned for him in neurology clinic?
How many types of HMSN do you know?
What is the inheritance pattern for this disease?

I guess one would order a NCS to look for either velocity or the amplitude is affected.

There are HMSN type 1, and 2, and the distal spinal muscular atrophy. Type 1 being the demyelinating form and type 2 axonal degeneration type

Inheritance is either autosomal dominant or recessive. Need to look into the eyes as well.

Is the common or lateral popliteal thickened and does he have pes cavus?? it looks as if he has high arch but can't really see clearly

 
At 5/31/2006 06:25:00 PM, Blogger eMRCPian said...

The common peroneal nerve is not thickened. There is no pes cavus.

 

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