PakMediNet Discussion Forum : Medical Education inside Pakistan : wats the diagnosis?
wats the diagnosis?
assalamu alaikum all
we recently came across a patient referred to our NCS/EMG lab for electrodiagnosis, brief history is as;
HISTORY;
25 yr young man, single, presented with 1 1/2 yr H/O progressive wkness all 4limbs, gradual in onset involving Lt upper limb to begin with along with twitching and jerky movements(as per patient),step by step involving all 4 limbs.for the last 4 months he is bed bound,power 1/5 all 4 limbs,no sitting balance,weak neck holding, dysphagia (on NG feeding), dysphonis(only able to utter aaa),continent for sphincters, brisk reflexes, sensation not testable (we presumed Ok),planters withdrawel. S/CK was 18,000u/l, aldolase 20.9u/l
All other lab invest incl CBC, ESR, ALT, BSR, S/E were normal.CT brain, MRI C/spine was not done yet.
referal doctor wanted to rule out MND/myositis.
Nerve conduction studies(NCS) absolutely normal.On Elecromyography (EMG)there was nothing abnormal apart from decreased activation.
Question is?
1. Can myositis present with normal EMG with such critical condition?
2. cud that be a variant presentation of MND/GBS? with normal electrodiagnosis?
3. can we explain High CK/aldolase with normal EMG?
4. whats yor opinion?
I will be oblidged
(Dr nizam's spec interest is required)
[Edited by drgill on 08-06-2007 at 03:54 AM GMT]
[Edited by drgill on 08-06-2007 at 03:55 AM GMT]
Posted by: drgillPosts: 25 :: 08-06-2007 :: | Reply to this Message
Re: whats the diagnosis?
Waalaikum salaam.
Amyotrophic Lateral Sclerosis remains in the differential diagnosis. Did you inspect his tongue and other muscle groups for fasiculations? Were there other signs of lower motor neuron dysfunction such as muscle wasting? In context of a relatively normal EMG it is absolutely essential to obtain an MRI of the brain and cervical spine.
Guillain Barre syndrome is extremely unlikely. You do not see brisk reflexes in GBS. What about the rest of his cranial nerves? Myopathy is less likely (but possible) based on the presentation.
The stepwise approach in this patient would be:
1. Thorough neurological examination specifically looking for fasiculations and muscle wasting, sensory level, position and vibration sense.
2. Is there a significant family history?
3. What about the rest of the lab work? LFTs, hepatitis panel? HIV? Chest X-ray.
4. Spinal tap if MRI negative and send for cytology and CMV.
5. If all the above is negative consider muscle biopsy.
I would strongly recommend getting a consult from Dr Ismail Khatri.(Neurologist at Shifa Hospital Islamabad).
Good luck. Please keep us posted.
Nizam
[Edited by Nizam on 08-06-2007 at 02:16 PM GMT]
[Edited by Nizam on 09-06-2007 at 02:08 AM GMT]
Posted by: NizamPosts: 82 :: 08-06-2007 :: | Reply to this Message
Re: Re: whats the diagnosis?I personally agree with Dr. Nizam. This patients needs muscle biopsy to clear the diagnostic confusion. History suggests MND (ALS) but raised muscle enzymes / normal EMG is against it.
Posted by: docosamaPosts: 333 :: 10-06-2007 :: | Reply to this Message
Re: wats the diagnosis?i think d above 2 r true but detail blood analysis wouid be helpful2 rule out any systemic disease..
Posted by: s.mariaPosts: 2 :: 14-06-2007 :: | Reply to this Message
Re: Re: whats the diagnosis?
AOA
Thx for your concern and time , as i have mentioned, that was a referral case to us for NCS/EMG from RGH Rawalpindi, lab investigation available with the patient by that time were posted.there was no gross wasting in distal muscles.Bulber & para spinal muscles were sampled.No denervation potential could be detected.We recommended MRI Brain in our report.My queries remain there?
Regards
Posted by: drgillPosts: 25 :: 15-06-2007 :: | Reply to this Message