PARAPARESIS-3

"PARAPARESIS"

A YOUNG MALE WITH BILATERAL LOWER LIMB WEAKNESS AND DIFFICULTY IN SQUATTING...

I've been given this case data to solve in an attempt to understand and analyize the topic "PARAPARESIS" based on patient clinical data in order to develop competency in reading and comprehending clinical data related to Paraparesis and come up with a suitable diagnosis.

You can find the original case in the link below-

https://srianugna.blogspot.com/2020/05/hello-everyone.html

FOLLOWING IS THE PROBLEM LIST ACCORDING TO PATIENT'S PRIORITY:

MAIN COMPLAINTS:

     1. Weakness of bilateral lower limbs since 20 days

     2. Bilateral Edema in both legs

     

EACH COMPLAINT IN DETAIL:

 1.WEAKNESS OF BOTH LOWER LIMBS:

• Since 20 days
• ONSET: Insidious
• Gradually progressive
• Started in proximal region 2 yrs back
• Later progressed to B/L distal region
• ASSOCIATED FEATURES:
• H/O difficulty in squatting position and getting up from squatting position
• H/O difficulty in wearing and holding footwear
• PROBABLE DIAGNOSIS:
• Myopathy
• Peripheral Neuropathy
• UMN/LMN lesions
• Drug induced

 2.BILATERAL EDEMA:

• Non-pitting type
• PROBABLE CAUSE:
• may be due to inflammation

The systems to be examined closely according to the complaints for this case are CNS and NEUROMUSCULAR SYSTEMS.

PAST HISTORY:

• No similar complains in the past and no H/O Trauma
• Not a known case of HTN,Diabetes,EPILEPSY,CVA,CAD

FAMILY HISTORY- not significant

No known food or drug allergies

GENERAL EXAMINATION: 

Patient was conscious, coherent and cooperative,moderately built and nourished.

• no signs of pallor, Icterus, clubbing, cyanosis, lymphadenopathy elicited.
• Bilateral calf hypertrophy noticed. 

CVS EXAMINATION:

• Heart sounds heard
• Palpable thrill in neck suggesting hyperdynamic circulation.

LOCAL EXAMINATION of CNS and NEUROMUSCULAR SYSTEM:

Patient well oriented to time, place and person

Normal higher mental functions.

Cranial nerves- intact function.

MOTOR SYSTEM:

• NORMAL TONE of the lower limb muscles
• Power of 4/5 in all lower limb muscles
• Reflexes: absent in both lower limbs

SENSORY SYSTEM: Normal/Intact

 

No meningeal signs and cerebellar signs.

TO RULE OUT VARIOUS FACTORS(Investigations):

Weakness is a very common symptom with many causes and they need to be investigated for and ruled out to come to a diagnosis.

ANATOMICAL LOCATION OF THE PROBLEM:

• UMN Lesions are characterised by hypereflexia,spastic paralysis,hypertonia -- absent in this case --so ruled out
• LMN Lesions can occur at the level of anterior horn cells,peripheral nerves,neuromuscular junction or at muscles
• For ruling out lesion at level of anterior horn cell/peripheral nerves -- NERVE CONDUCTION STUDIES HAVE TO BE DONE -- to check if the problem is NEUROGENIC
• To rule out NEUROMUSCULAR JUNCTION DISORDERS --ELECTROMYOGRAPHY is done which is NORMAL -- NMJ ruled out.
• HISTOPATHOLOGICAL REPORTS of the muscle shows that the problem is in the MUSCLE.

                    

• Which type of muscular dystrophy is it??

       (referring to the link--https://pubmed.ncbi.nlm.nih.gov/8981297/ )

• In this case, the muscular dystrophy is associated with Calf hypertrophy also known as Pseudohypertophy
• Such presentation is seen in DUCHENES and BECKERS type of muscular dystrophies.

• Duchene ,uscular dystrophy usually leaves the patient ambulated by the time reach their adolescence.
• But in this case, the patient is not ambulated and walks with difficulty -- so Duchene muscular dystrphy is ruled out
• Most likely to be --Beckers type

OTHER INVESTIGATIONS: Serology,RFT,ECG,CUE

PHYSIOLOGICAL OR FUNCTIONAL DISABILITY:

• Muscle dystrophy is generally mild in patients with chronic inflammatory demyelinating polyneuropathy (CIDP ) compared with the severity and duration of the muscle weakness. 
• Muscle dystrophy was evaluated using computed tomography (CT ) in patients with CIDP .
• Nerve conduction examinations revealed significantly greater reductions in compound muscle action potential amplitudes in the tibial nerves of patients with muscle atrophy. Sural nerve biopsy findings were similar in both groups

ETIOPATHOGENESIS:

According to the information in the link--

https://www.fasebj.org/doi/abs/10.1096/fasebj.30.1_supplement.991.7

The information goes as follows...

• "CIDP is characterized, in most cases, by symmetrical weakness in proximal and distal muscles that progresses for greater than 2 months.
• Evidence indicates that disease-related post-synaptic damage and muscle fiber atrophy lead to neuromuscular junction remodeling and impaired neuromuscular transmission 
• Voluntary muscle weakness appears multifactorial and is due to limitations of peripheral neuromuscular transmission, muscle atrophy and moderate MU loss."

CERTAIN POINTS OF IMPORTANCE:

According to the information given in the link--https://pubmed.ncbi.nlm.nih.gov/8981297/....

• "Calf hypertrophy is a typical clinical feature in neuromuscular diseases such as X-linked muscular dystrophies of Duchenne and Becker type and can be seen as an atypical feature in numerous other diseases."

According to the link-- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3487533/...the information goes as follows....

• "Chronic inflammatory demyelinating polyneuropathy (CIDP) is an immune mediated disorder of the peripheral nervous system with clinical features that include weakness, sensory loss, imbalance, pain and impaired ambulation which may lead to substantial disability."
• "The classic form of the disorder is characterized by: 
• (1) progressive limb weakness, usually with a predilection for proximal muscles, sensory loss, and areflexia with a relapsing or progressive course
• (2) electrophysiological features of demyelination, including prolonged distal motor and F-wave latencies, reduced conduction velocities, and conduction block and temporal dispersion
• (3) laboratory features of albumino-cytological dissociation in the cerebrospinal fluid
• (4) inflammation, demyelination, and remyelination on nerve biopsy "

DIAGNOSIS:

• Muscular dystrophy -- Acute Episode on CIDP

TREATMENT:

• T.Prednisolone 15 mg po od -- glucocorticoid to treat CIDP
• T.Pantop 40 mg bbf -- to prevent gastric irritation
• T.Met xl 12.5mg od -- Beta blocker for cardiac problem
• Cap. Becosules od -- multivitamin formulation
• T.Chymerol forte od -- for pain and inflammation
• T.Vit C od
• T.Ultracet sos -- for pain

FUTHER TREATMENT SUGGESTED:

• Plasma Exchange
• Intravenous Immunoglobulin (IVIg)
• Gene therapy
• Physiotherapy

THANK YOU

REFERENCES:

• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3487533/

• https://pubmed.ncbi.nlm.nih.gov/8981297/

• https://srianugna.blogspot.com/2020/05/hello-everyone.html

• https://www.fasebj.org/doi/abs/10.1096/fasebj.30.1_supplement.991.7

ACTIVE LEARNING AND CONVERSATIONAL DECISION SUPPORT TO TREATING TEAM OF THIS CASE :

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

[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?

[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

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

[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.👍