Case wise Active learning and discussion-4
Case 4-- Paraparesis
A YOUNG MALE WITH BILATERAL LOWER LIMB WEAKNESS AND DIFFICULTY IN SQUATTING...
We the MBBS final year students have been given these cases on weekly basis to solve in an attempt to understand the topic of "patient clinical data analysis" to develop my competency in reading and comprehending clinical data including history, clinical findings, investigations and come up with a diagnosis and treatment plan.
- Link to Reference:
- Link to my analysis:
ACTIVE LEARNING AND CONVERSATIONAL DECISION SUPPORT TO TREATING TEAM OF THIS CASE :
- My active learning discussion:
Second case analysis of paraparesis in an 18 year male with difficulty in walking
[5/22, 23:20] MBBS 2016 UG 3: Sir...certain sources say...there is edema in chronic inflammatory demyelinating polyneuropathy...but why...i dont understand...
[5/22, 23:21] Post residency PG1: Edema in the skin?
Look up peripheral neuropathy and edema due to autonomic dysfunction and share what you learn
Look up peripheral neuropathy and edema due to autonomic dysfunction and share what you learn
[5/22, 23:22] MBBS 2016 UG 3: No sir...intramyelinic edema not skin edema
[5/22, 23:24] Post residency PG1: Oh that's easy. It's in the name.
Inflammatory demyelinating. Edema is a characteristic of inflammation?
Inflammatory demyelinating. Edema is a characteristic of inflammation?
[5/22, 23:29] MBBS 2016 UG 3: Ohh yes sir
[5/23, 00:05] MBBS 2016 UG 3: http://shivani2401elogbookmedicine.blogspot.com/2020/05/paraparesis-young-male-with-bilateral.html
[5/23, 00:05] MBBS 2016 UG 3: Sir...My case analysis on the case of muscle dystrophy over CIDP
[5/23, 09:52] Post residency PG1: 👍Your write up is good in building conceptualization but it contains a lot of copy pasted material that have not been adequately referenced in the text itself. By going to your list of references at the end one may not be able to figure out which sentences and images have been borrowed from where. Also please check the intellectual property rights settings of the things that you have borrowed else they may label it as stealing.
One can only borrow and quote with "..." a few lines from online resources with links to the original resources right at the place where they have been borrowed and shared in your write up.
Always remember it's your original content that we are looking for. For example the original poster of the case has collected original case data from the patient that is unique to that particular patient and that contribution is original. Similarly if you ask questions and learn actively with some help from properly referenced online resources that you also need to critically appraise (for example how would you know that what those online resources are stating is the truth?) your work will contain more and more original thoughts that can be guaged to have originated from your own efforts.
Overall very well done write up but please address the above points and please go through this link https://medicinedepartment.blogspot.com/2020/05/frequently-asked-questions-around-case.html?m=1
One can only borrow and quote with "..." a few lines from online resources with links to the original resources right at the place where they have been borrowed and shared in your write up.
Always remember it's your original content that we are looking for. For example the original poster of the case has collected original case data from the patient that is unique to that particular patient and that contribution is original. Similarly if you ask questions and learn actively with some help from properly referenced online resources that you also need to critically appraise (for example how would you know that what those online resources are stating is the truth?) your work will contain more and more original thoughts that can be guaged to have originated from your own efforts.
Overall very well done write up but please address the above points and please go through this link https://medicinedepartment.blogspot.com/2020/05/frequently-asked-questions-around-case.html?m=1
where we have already extensively discussed this issue.
[5/23, 10:01] MBBS 2016 UG 3: Okay sir....i will keep these points in my mind when i do my next write up and will look into the discussion
Thank you
Thank you
[5/23, 10:05] Post residency PG1: Try to edit your current write up accordingly.
Don't delete anything. Just type edit below the sentences where you need to make the changes and then insert those, particularly the references
[5/23, 10:06] MBBS 2016 UG 3: Ok sir
[5/23, 19:32] Post residency PG1: What about this one below?
"For ruling out lesion at level of anterior horn cell/peripheral nerves -- NERVE CONDUCTION STUDIES HAVE TO BE DONE -- to check if the problem isNEUROGENICTo rule outNEUROMUSCULAR JUNCTION DISORDERS --ELECTROMYOGRAPHY is done which is NORMAL -- NMJ ruled out."
It also appears to be not from a health professional resource?
[5/23, 19:32] Post residency PG1: "HISTOPATHOLOGICAL REPORTS of the muscle shows that the problem is in theMUSCLE."
How? 🤔
[5/23, 19:45] MBBS 2016 UG 3: It is there in our medicine textbook sir...i got it from there
[5/23, 19:47] MBBS 2016 UG 3: And this was given in the reports of the case given to us in the intern's blog
[5/23, 20:10]Post residency PG1 : Which medicine text book. Things have to be referenced by text page numbers
[5/23, 20:11] Post residency PG1: I know that. But think over what you have written and what is actually written in the report. The report says the muscle is normal
[5/23, 20:17] MBBS 2016 UG 3: Ohh..ok sir...its davidson sir
[5/23, 20:20] MBBS 2016 UG 3: Evidence*
[5/23, 20:21] Post residency PG1: It's probably written no evidence
[5/23, 20:25] MBBS 2016 UG 3: Sir...so maybe the muscle biopsy reports are needed to find out the pathology in the muscle
[5/23, 20:27]Post residency PG1: Sir according to the Reports he didn’t have dystrophy.
[5/23, 20:27] Post residency PG1: Sensitivity rate of 85% for which disease?
[5/23, 20:27] Post residency PG1: Yes it was normal.
So find out which are the myopathies where the muscle biopsy appears normal
[5/23, 20:30] MBBS 2016 UG 3: Ok sir...understood
[5/23, 20:35] MBBS 2016 UG 3: So sir...this means that...this patient is one of those 15% people who get their muscle biopsies normal though they hve musclar dystropjy
[5/23, 20:41] Post residency PG1: He has a myopathy that is showing normal muscle biopsy. The other possibility is muscle enzyme deficiency. Can you find which muscle enzyme disorders can produce that?
[5/23, 21:05] MBBS 2016 UG 3: Yes sir
[5/24, 00:03] MBBS 2016 UG 3: Sir...I think its Pompe's disease (Glycogen storage disease type II) -- also a type of metabolic myopathy which probably shows normal muscle biopsy
[5/24, 00:05] MBBS 2016 UG 3: It is due to lysosomal acid alpha-glucosidase enzyme deficiency.
[5/24, 12:49] Post residency PG1: Can you share any similar case report of Pompes disease that resembles our patient?
This one reported here https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3861064/ appears to be in infancy. Would be nice if you can find a case report that is like our 18 year old with myopathy
[5/24, 14:47] MBBS 2016 UG 3: Sir...here is a case which i found...it is an 18 yr old with adult onset pompes disease
[5/25, 18:30] Post residency PG1: Good.
Quote the areas that are similar to our current patient
[5/25, 18:43] MBBS 2016 UG 3: Ok sir
[5/25, 20:15] MBBS 2016 UG 3: Sir...I have highlighted the points
[5/25, 20:53] MBBS 2016 UG 3: Sir...basically i found that there are not much similaries other than the age of the patient and his symptom of weakness, his thyroid profile and cns status being normal
[5/25, 22:06] Post residency PG1: So we need to search for another case that matches our patient
[5/25, 22:07] MBBS 2016 UG 3: Yes sir
[5/26, 00:36] MBBS 2016 UG 3: Sir...is it true that muscle biopsy can be normal in Pompe's disease?
[5/26, 08:27] Post residency PG1: Just search and let us know. Keywords to enter: pompes muscle biopsy findings 👍
[5/26, 10:08] MBBS 2016 UG 3: Ok sir
[5/26, 10:11] MBBS 2016 UG 3: "Increased acid phosphatase activity and vacuoles were the primary findings. Most vacuoles were filled with glycogen, and the adult form of the disease had fewer fibers with vacuoles than the infantile or childhood forms."
Reference: https://pubmed.ncbi.nlm.nih.gov/23689405/
[5/26, 10:14]Post residency PG1: Were there normal biopsies reported in pompes?
[5/26, 10:32] MBBS 2016 UG 3: "A significant contributing factor to identification and treatment of this disease has been the use of muscle biopsy as the gold standard of diagnosis for all forms of muscle disease, including muscular dystrophies, inflammatory myopathies, and particularly the metabolic myopathies, of which Pompe disease is currently the only treatable form. 19 European studies have shown that even in genetically proven Pompe’s, the muscle biopsy can be normal in 20% to 30% percent of cases."
Here's the reference sir:
https://www.cambridge.org/core/journals/canadian-journal-of-neurological-sciences/article/reevaluating-muscle-biopsies-in-the-diagnosis-of-pompe-disease-a-corroborative-report/49A84CA2F14ACD004E22B110B21BE2BC/core-reader
[5/26, 10:32] MBBS 2016 UG 3: There are 20-30% cases reported with normal muscle biopsies sir
[5/26, 12:20] Post residency PG1: 👏👏👍
[5/26, 12:22] Post residency PG1: How were those 20-30% diagnosed as Pompes? What other parameters were used in presence of normal muscle biopsy?
[5/26, 12:43] MBBS 2016 UG 3: Sir...A retrospective study was done in these patient of myopathy with normal biopsy studies.
-The Study included these tests:
1. Dry Blood Spot Test to measure GAA enzyme activity
2. GAA gene testing
Reference:
https://www.cambridge.org/core/journals/canadian-journal-of-neurological-sciences/article/reevaluating-muscle-biopsies-in-the-diagnosis-of-pompe-disease-a-corroborative-report/49A84CA2F14ACD004E22B110B21BE2BC/core-reader
[5/26, 12:46] Post residency PG1: Yes but how was the diagnosis established in the patient's with the normal muscle biopsy?
Is there any other way to establish the diagnosis?
[5/26, 12:58] MBBS 2016 UG 3:
-Serum Creatine Kinase levels
-Blood based assays to measure α-glucosidase activity
[5/26,12:59]MBBS2016UG3: https://pubmed.ncbi.nlm.nih.gov/23649721/ -- Reference sir
[5/26, 13:03] Post residency PG1: Very good 👍👏👏
[5/26, 13:04] MBBS 2016 UG 3: Thank you Sir
[5/27, 23:20] Post Residency PG1: So is it Becker's dystrophy or Enzymatic myopathy such as Pompes?
[5/27, 23:20] Post Residency PG1: As it is a glycogen storage disorder it will affect the liver too. He does not have any symptoms suggestive of liver involvement.
And also the age is more suggestive of Becker’s.
[5/27, 23:20] Post Residency PG1: Also in pompes there is more respiratory involvement than skeletal muscle.
[5/27, 23:27] MBBS 2016 UG 3: Yes sir...there is respirtory involvement in pompes
[5/27, 23:32] Post Residency PG1: But in that 18M case report you shared there wasn't any
[5/27, 23:41] MBBS 2016 UG 3: Yes sir
[5/27, 23:41] MBBS 2016 UG 3: So it isnt pompes
[5/27, 23:41] MBBS 2016 UG 3: Beckers myopathy is the probable diagnosis
[5/27, 23:50] MBBS 2016 UG 3: Sir...i have just now found out that certain myopathies like Becker's and Duchene do not require muscle biopsy for their diagnosis...just as in our patient with normal histology on muscle biopsy
[5/27, 23:51] MBBS 2016 UG 3: Reference:
https://emedicine.medscape.com/article/1847877-overview#a2
[5/27, 23:52] MBBS 2016 UG 3: So most probably...it is Becker's in our patient...
[5/28, 07:10] Post Residency PG1: I meant that the Pompes case report you shared also didn't have any respiratory involvement so there's still a chance that Team Manasa's patient may be Pompes?
[5/28, 07:12] Post Residency PG1: List the points in favor of Becker's for our patient being cared by Team Manasa
[5/28, 08:18] MBBS 2016 UG 3: Yes sir
[5/28, 13:33] MBBS 2016 UG 3:
-Muscle weakness gradually increasing difficulty with walking
-Difficulty in getting up from squatting position
-Pseudohypertrophy of calf muscles
-Edema
-Palpable thrill in the neck suggesting hyperdynamic circulation
[5/28, 16:28] Post Residency PG1: Very good.👍
- OTHER DISCUSSIONS:
20/05/20, 8:50:21 PM] MBBS 2016 UG 2: Good evening sir
[20/05/20, 8:51:38 PM] MBBS 2016 UG 2: Sir I wanted to ask regarding the ECG in the 1st case by Anughna ma’am. It’s not clear.
[20/05/20, 8:58:41 PM] Post Residency PG1: 👍yes please ask and also post your queries to the comment section of her log book and keep your queries coming as its the only way to score more and more learning points 👍
[20/05/20, 8:59:14 PM] MBBS 2016 UG 2: Okay sir
[20/05/20, 8:59:48 PM] MBBS 2016 UG 2: So what are the ECG findings?
[20/05/20, 9:00:21 PM] Post Residency PG1: Can you share a link to the Ecg image?
[20/05/20, 9:00:32 PM] MBBS 2016 UG 2: Yes sir
[20/05/20, 9:00:39 PM] MBBS 2016 UG 2: It is actually a picture
[20/05/20, 9:00:44 PM] MBBS 2016 UG 2: And it’s not very clear
[20/05/20, 9:01:13 PM] MBBS 2016 UG 2: But I heard the discussion where you have been saying that there is something in the V3 and V4 leads.
[20/05/20, 9:01:40 PM] Post Residency PG1: If you click on the picture it will open and you can copy the link from the browser
[20/05/20, 9:04:32 PM] Post Residency PG1: Share the link as all our discussion will go here too https://medicinedepartment.blogspot.com/2020/05/frequently-asked-questions-around-case.html?m=1
[20/05/20, 9:07:41 PM] MBBS 2016 UG 2: I did it sir.
[20/05/20, 9:08:03 PM] Post Residency PG1: Where?
[20/05/20, 9:08:29 PM] MBBS 2016 UG 2: In this link I copied the link and asked the question in the comments section
[20/05/20, 9:09:48 PM] Post Residency PG1: It's not showing. Anyway share it here
[20/05/20, 9:10:00 PM] MBBS 2016 UG 2: https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh75t8RtFHAhggKS5RpnNuFsG4nWToMtcAbAl5psqerQyXI2EkrtbLuDQopouVI5DiWoT-Z2VPE4aGVponccLiwrkXdt9CgoiVxVzhTTmOu48-tIrT1voX6gxWVvbK0Kg1kmdSSpGnmjhyO/
[20/05/20, 9:10:54 PM] MBBS 2016 UG 2: It says the comment has to be approved.
[20/05/20, 9:11:13 PM] MBBS 2016 UG 2: It will be visible after approval sir
[20/05/20, 9:14:16 PM] MBBS 2016 UG 2: Okay sir. Thank you sir.
[20/05/20, 9:14:54 PM] Post Residency PG1: Is the voltage in the chest leads normal?
[20/05/20, 9:16:34 PM] MBBS 2016 UG 2: Yes sir.Actually it’s not very clear sir.
[20/05/20, 9:41:56 PM] Post Residency PG1: Are they similar to the EcGs described here?
https://litfl.com/katz-wachtel-phenomenon/
[20/05/20, 9:43:38 PM] MBBS 2016 UG 2: Yes sir.! It is similar to this
[20/05/20, 9:44:42 PM] Post Residency PG1: So what could your patient be having in his heart? Ask Anughna in her logbook comment box?
[20/05/20, 9:45:04 PM] MBBS 2016 UG 2: Yes sir I will ask Anughna maam
[20/05/20, 9:45:16 PM] MBBS 2016 UG 2: is it associated with a congenital heart disease?
[20/05/20, 9:47:52 PM] Post Residency PG1: What were the cardiovascular findings documented by Anughna?
[20/05/20, 9:48:42 PM] MBBS 2016 UG 2: I am asking ma’am sir. Dilatation of heart
[20/05/20, 10:05:25 PM] Post Residency PG1: So the Echo confirms the biventricular hypertrophy seen in the ECG?
[20/05/20, 10:06:50 PM] MBBS 2016 UG 2: Yes sir In the discussion video you said so.
[23/05/20, 4:26:33 PM] Post Residency PG1: You didn't mention what were the muscle biopsy findings in our patient and what are the possible muscle biopsy findings that you shared as differentials.
The muscle biopsy was our only hope of clinching the pathology before we moved to another differential that would have necessitated a Biochemical study of the muscle tissue.
So what could be the biochemical causes of his myopathy?
[23/05/20, 4:29:58 PM] MBBS 2016 UG 2: Oh yes. I mentioned it saying the muscle biopsy showed dystrophy sir.
[23/05/20, 4:31:43 PM] MBBS 2016 UG 2: Hoffman’s syndrome sir. Hypothyroidism could be responsible for it. Because he also has Dilatation of LV
[23/05/20, 4:32:04 PM] MBBS 2016 UG 2: And his ECG findings also suggested that.
[23/05/20, 4:33:01 PM] MBBS 2016 UG 2: Biochemical cause could be the mutation sir. If he has Beckers, then he will have mutations in the dystrophin gene.
[23/05/20, 4:47:20 PM] Post Residency PG1: Did our patient have any findings in his muscle biopsy suggestive of any of the diseases you mentioned?
[23/05/20, 4:48:44 PM] Post Residency PG1: Can enzyme muscle deficiencies due to AMPD 1 mutations like the online patient case, lead to myopathy? What will be the biopsy findings in such cases?
[23/05/20, 4:49:28 PM] Post Residency PG1: What is more important than ECG in confirming LV dilation?
[23/05/20, 7:35:39 PM] MBBS 2016 UG 2: Echo is more confirmatory sir.
[23/05/20, 7:36:38 PM] MBBS 2016 UG 2: Sir according to the Reports he didn’t have dystrophy.
[23/05/20, 7:39:02 PM] Post Residency PG1: Yes it was normal.
So find out which are the myopathies where the muscle biopsy appears normal
[23/05/20, 7:39:22 PM] MBBS 2016 UG 2: Okay sir. I will do that.
[23/05/20, 7:55:47 PM] MBBS 2016 UG 2: Sir generally muscle biopsies have a sensitivity rate of 85% in case of myopathies but has about 100% sensitive in case of NMJ disorders.
And it is also more sensitive in case of an infectious etiology
[23/05/20, 7:56:18 PM] MBBS 2016 UG 2: http://iv.iiarjournals.org/content/32/6/1647.full
[23/05/20, 8:03:32 PM] Post Residency PG1: Sensitivity rate of 85% for which disease?
[23/05/20, 8:18:45 PM] MBBS 2016 UG 2: Myopathies in general and in that it has a comparatively lower rate for congenital dystrophies
[24/05/20, 4:30:25 PM] MBBS 2016 UG 2: Yes sir it can lead to myopathy.
But it is characterised by exercise induced fatigue in general not just paraparesis
[24/05/20, 4:32:35 PM] Post Residency PG1: 👍any links?
[24/05/20, 4:33:29 PM] MBBS 2016 UG 2: https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-1-deficiency
[24/05/20, 4:33:35 PM] MBBS 2016 UG 2: Yes sir
[25/05/20, 12:10:27 PM] MBBS 2016 UG 2: No sir his muscle biopsy findings didn’t contribute to any of my differentials
[25/05/20, 12:11:14 PM] MBBS 2016 UG 2: But since he had dystrophy and CVS symptoms I thought of the possible diagnoses
[25/05/20, 12:11:47 PM] MBBS 2016 UG 2: I confirmed it with intern ma’am that he had dystrophy.
[25/05/20, 8:30:59 PM] Post Residency PG1: 👍👏👏
[25/05/20, 8:31:20 PM] Post Residency PG1: 👍
[25/05/20, 11:26:43 PM] MBBS 2016 UG 2: Thank you sir.
[26/05/20, 8:28:38 AM] Post Residency PG1: What is the confirmation of his dystrophy?
[26/05/20, 3:00:13 PM] MBBS 2016 UG 2: I think based on clinical features sir. I will confirm it once again with her.
[27/05/20, 8:16:01 AM] MBBS 2016 UG 2: Good morning sir. It was confirmed based on the clinical features, Creatinine kinase levels. Because muscle biopsy is not very confirmative in a case of Becker’s muscular dystrophy. For further confirmation genetic testing is needed.
[27/05/20, 9:12:29 AM] Post Residency PG1: So is it Becker's dystrophy or Enzymatic myopathy such as Pompes?
[27/05/20, 9:56:01 AM] MBBS 2016 UG 2: I will find it out sir.
[27/05/20, 8:57:59 PM] MBBS 2016 UG 2: Sir as it is a glycogen storage disorder it will affect the liver too. He does not have any symptoms suggestive of liver involvement.
And also the age is more suggestive of Becker’s.
[27/05/20, 8:58:22 PM] MBBS 2016 UG 2: Also in pompes there is more respiratory involvement than skeletal muscle.
2939.pdf
[27/05/20, 11:23:06 PM] Post Residency PG1: No respiratory involvement in this case log
[28/05/20, 8:31:02 AM] MBBS 2016 UG 2: Sir muscle biopsy in our case didn’t show any findings consistent with pompe’s. PAS staining should be done to detect glycogen.
[28/05/20, 8:32:07 AM] Post Residency PG1: Leaving aside PAS staining that couldn't be done here are there other findings in muscle biopsy that could be suggestive?
[28/05/20, 9:09:50 AM] MBBS 2016 UG 2: No sir. There are no findings which are consistent with pompes disease.
We could do blood assay to check the α-glucosidase activity.
[28/05/20, 9:15:07 AM] MBBS 2016 UG 2: Blood based assays are more sensitive than muscle biopsy sir
[28/05/20, 9:15:22 AM] MBBS 2016 UG 2: https://pubmed.ncbi.nlm.nih.gov/25085280/
[28/05/20, 9:20:38 AM] Post Residency PG1: But are they specific?
[28/05/20, 10:38:29 AM] MBBS 2016 UG 2: More specific than muscle biopsy sir
[28/05/20, 10:41:17 AM] MBBS 2016 UG 2: And further to confirm the diagnosis it should be followed by a second GAA enzyme activity assay in another tissue or GAA gene sequencing.
[28/05/20, 10:41:32 AM] MBBS 2016 UG 2: https://pubmed.ncbi.nlm.nih.gov/19533647/
[28/05/20, 11:47:18 AM] Post Residency PG1: Can you share some numbers with the study links to substantiate this?
[28/05/20, 4:09:40 PM] MBBS 2016 UG 2: Yes sir
ED01.pdf
[28/05/20, 4:11:14 PM] MBBS 2016 UG 2: As per this, it has a sensitivity of 90-100% and specificity of >99%
[28/05/20, 4:43:46 PM] Post Residency PG1: It appears to be a review article. Can you quote the reference which would have been the actual study that demonstrated the sensitivity and specificity?
[28/05/20, 5:32:59 PM] MBBS 2016 UG 2: Okay sir. I will find it out
[28/05/20, 5:35:51 PM] MBBS 2016 UG 2: https://pubmed.ncbi.nlm.nih.gov/18519449/
[28/05/20, 5:37:39 PM] MBBS 2016 UG 2: But this is for IOPD sir.
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