42 year old female with multiple health events since birth




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CASE:

The present complains of this patient are as follows
She gives a history of frequent falls on her left side with giving away of foot and hand.
There is also history of left sided jaw pain radiating all over the face.
History of intensified aura and increased headache 1 month after the incident of left sided spinning event which increased to such an extent that it caused her to vision loss for 2hours or so and also gives complains of on and off stuttering and inability to walk and memory loss.
Her weight fluctuates because of swelling which occurs when she is in stress , exercise or eats something wrong.


The priority of her complains according to my analysis should be
1. Her cognitive functions(since its patient's own request)

2. To focus on why she has somemuch of salt cravings just to make her feel better(because increase intake of salt can lead to further complications)

3. Her left sided symptoms and her headaches which are present since the age of 2

The 1st question that arises in my mind is why is her left sided only getting affected?
Is it because she has a lesion on her right side of the hemisphere? If so, what kind of lesion it is. For that we have to do an imaging study (CT AND MRI)
Since she is not hypertensive yet that means she having hypertensive CVA can be ruled out for the cause of her symptoms?
Or can it be because she has  AMPD1 gene mutation resulting in decrease AMPD enzyme because of which her muscle power and tone is decreased?
She also is at risk of vitamin B12 deficiency and increase levels of homocysteine in blood due to mutated MTHFR gene. So is it possible that ischemia and stroke resulting in those symptoms? For that vitamin B12 in serum and homocysteine levels should be checked and peripheral smear.

Her cognitive functions impairment may be because of a consequence of left sided symptoms or neurological impairment due to decrease myelin synthesis and increase degeneration due to vitamin B12 deficiency?

 Loss of muscle function and neurological impairment due to accumulation of methylmalonic acid in blood can also be one of the reasons.

Her headache and aura have been progreesive since birth....why is she having those? Can  it be because of raised intracranial tension? For that we have to do CSF analysis and rule out.

One of the most important symptoms is her swelling in face, abdomen.
We is she swelling after exercise or stress or after eating wrong food. In my view because she is G6PD deficient patient, her oxidative stress is causing cytotoxic edema resulting in swelling.

Another question that arises is why is she having salt cravings to make her feel better?
Since she has G6PD enzyme deficiency, exceesive hemolysis resulting in increase bilirubin and urobilin levels. 

Urobilin causes kidney damage and hence the ions are not reabsorbed and so to keep her hydrated and to maintain her ionic balance body is trying to take salt? 

 She is been diagnosed with Bechet's where the autoimmune inflammation in the blood
 vessels is responsible for formation of clots and ischemic disease which may explain the left sided symptoms.

Comments

  1. Well done Muskaan.

    "The 1st question that arises in my mind is why is her left sided only getting affected?

    Is it because she has a lesion on her right side of the hemisphere? If so, what kind of lesion it is. For that we have to do an imaging study (CT AND MRI)"

    Good question. But what about inexpensive clinical examination that can also answer the same question before jumping to a CT or MRI?

    What clinical examination findings would help you to determine if she has a structural lesion in her right hemisphere?

    ReplyDelete
    Replies
    1. Sir we can perform motor function test like muscle power, tone of the muscles and tendon reflexes. Upper motor neuron lesion will show spasticity, hypertonia and hyperreflexia
      Certain tests like hoffman's sign and babinski's sign will also be positive.

      Delete
    2. So is there any neurological examination data supporting what you were trying to diagnose that is a brain lesion?

      Delete
  2. [5/16, 7:41 PM] Rakesh Biswas: "Or can it be because she has  AMPD1 gene mutation resulting in decrease AMPD enzyme because of which her muscle power and tone is decreased?"

    What is the reported incidence of such symptoms actually happening due to ampd1?
    [5/16, 7:42 PM] Rakesh Biswas: "Since she is not hypertensive yet that means she having hypertensive CVA can be ruled out for the cause of her symptoms?"

    Not sure what you meant 🤔


    [5/16, 7:44 PM] Rakesh Biswas: "She also is at risk of vitamin B12 deficiency and increase levels of homocysteine in blood due to mutated MTHFR gene. So is it possible that ischemia and stroke resulting in those symptoms? For that vitamin B12 in serum and homocysteine levels should be checked and peripheral smear."


    What is the best or what are the best tests to diagnose significant Vitamin B12 deficiency?
    [5/16, 7:45 PM] Rakesh Biswas: "Her cognitive functions impairment may be because of a consequence of left sided symptoms or neurological impairment due to decrease myelin synthesis and increase degeneration due to vitamin B12 deficiency?"

    What congnitive impairment is seen in Vitamin B12 deficiency? What cognitive impairment did the patient have?


    [5/16, 7:47 PM] Rakesh Biswas: "Loss of muscle function and neurological impairment due to accumulation of methylmalonic acid in blood can also be one of the reasons."

    Can you share some literature where this has been actually reported to happen in real patients?


    [5/16, 7:50 PM] Rakesh Biswas: "Her headache and aura have been progreesive since birth....why is she having those? Can  it be because of raised intracranial tension? For that we have to do CSF analysis and rule out."

    What is the mechanism of progressive headache caused by raised intracranial pressure since birth? Does that really happen? How does CSF analysis show raised intracranial pressure? 🤔

    [5/16, 7:52 PM] Rakesh Biswas: "In my view because she is G6PD deficient patient, her oxidative stress is causing cytotoxic edema resulting in swelling."

    How does oxidative stress cause cytotoxic edema resulting in facial swelling? Has this ever been reported in real patients? 🤔

    [5/16, 7:55 PM] Rakesh Biswas: "Another question that arises is why is she having salt cravings to make her feel better?"

    Good question but no answer yet? Will ask your batchmates.

    [5/16, 7:57 PM] Rakesh Biswas: "Urobilin causes kidney damage and hence the ions are not reabsorbed and so to keep her hydrated and to maintain her ionic balance body is trying to take salt?"

    That was your answer to the previous question I guess. But you mean bilirubin causes renal damage causing salt losing nephropathy? Can you find any real patient reported like that?

    [5/16, 7:59 PM] Rakesh Biswas: "She is been diagnosed with Bechet's where the autoimmune inflammation in the blood

     vessels is responsible for formation of clots and ischemic disease which may explain the left sided symptoms."

    What is the current data available with you to suggest she has Behcets?

    ReplyDelete
  3. https://www.sciencedirect.com/science/article/pii/S0960896600001279
    Sir this is case of japenese patient with AMPD 1 gene mutation showing progreesive weakness in her muscles

    ReplyDelete
    Replies
    1. Does she look similar to the muscle weakness our patient has? What is the grade of our patient's muscle weakness? Does it hamper her normal functioning?

      Delete
  4. Sir to detect vitamin B12 deficiency we can do blood test showing decrease hemoglobin and increase MCV
    Peripheral smear showing macrocytes and hypersegmented neutrophils.
    We have to check for serum levels of Vitamin B12 and Methylmalonic acid in blood
    Also we can check for homocysteine level in urine

    ReplyDelete
  5. This patient has memory loss and stuttering and inability to talk sometimes.
    Vitamin B12 deficiency individuals are also at risk of developing dementia.
    https://www.google.com/url?sa=t&source=web&rct=j&url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3874776/&ved=2ahUKEwjn_NDg2LjpAhXZzzgGHZDtB88QFjAKegQIARAB&usg=AOvVaw0_Cw8vKyUUKmsL6ESSBU-1
    This article shows relation between vitamin B12 deficiency and cognitive impairment.

    ReplyDelete
  6. There is video in youtube osmosis.com vitamin B12 deficiency that shows there is chance of neurological and muscle impairment due to accumulation of Methylmalonic acid
    I couldn't find any proper literature regarding the same.

    ReplyDelete
  7. When we are not sure of what is her hemoglobin why are we jumping to the diagnosis of vitamin B12 deficiency?

    ReplyDelete
  8. [5/16, 7:59 PM] Rakesh Biswas: "She is been diagnosed with Bechet's where the autoimmune inflammation in the blood

     vessels is responsible for formation of clots and ischemic disease which may explain the left sided symptoms."

    What is the current data available with you to suggest she has Behcets?

    [5/16, 9:15 PM] Muskaan 2015 KIMs: Sir it is wtitten in the original log book.

    [5/16, 9:18 PM] Rakesh Biswas: Yes what is currently written there (as in clinical data fitting Behchets) to suggest she actually has Behchets?

    [5/16, 9:27 PM] Muskaan 2015 KIMs: It just shows that she has been diagnosed with bechet's by the doctor and they want to give her colchicine.
    Also her symptoms haave been improved like her headache

    [5/16, 9:38 PM] Rakesh Biswas: Exactly so we need more data as to how or why her doctor diagnosed her as Behchets

    [5/16, 9:42 PM] Muskaan 2015 KIMs: Yes sir

    ReplyDelete

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