By N.Vaishnavi Reddy
I have been given this case 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.
You an find the entire real patient clinical problem in this link below..
https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1
Following is my analysis of the patient's problem:
The problems in order of priority are:
1. Headache
2. Swelling
3. Left sided weakness
4. Sleep deprivation
5. Fatigue
1. Headache- migraine with aura
Severe Headache started at the age of 2 yrs and became worse with menses at age 14 and while on birth control at age 32 caused migraine with aura .Migraine headache is episodic and 20% are classical(associated with aura). Possible reason hemiplegic migraine
Criteria for migraine with aura:
For migraine;
Repeated attaches of headache lasting for about 4-72hrs in patients with normal pe and no other reasonable cause for headache and causes are :
* unilateral headache *throbbing pain* aggravated by movement *moderate to severe intensity and *associated with nausea and vomiting *photophobia and phono phobia.
For aura;
*gradual onset * lasting < 60 min* reversible.
Investigations:
Fundus examination
CSF examination ( any infections)
CT and MRI of brain
EEG for detecting seizures
X-ray of paranasal sinuses ( sinusitis and tumours)
Treatment :
Triptans , anti-epileptics( seizures), and avoid stress and staying In dark room.
2. Swelling
It started at the age of 1 and she still swells up in conditions of emotional stress, smoking, exercise. Swelling is mainly on face, neck and abdomen.
The cause of it may be hemolytic crises on patient due to G6PD deficiency.
Which causes decrease in the levels of NADPH. This NADPH maintains the levels of reduced glutathione which inturn maintains the rbc integrity.
Thus in this deficiency rbc's become fragile and when subjected to oxidative stress undergoes hemolysis. Another cause being kidney failure. Excessive alcohol consumption.
Following are the symptoms suggestive of hemolysis
Coke colored urine , diarrhoea ,vomiting,swelling and acute kidney injury.
She also had infections:recurrent UTI and pneumonia;severe reactions to anti malaria drugs,sulfa drugs and flava beans.
Investigations done are:
Hemogram for anemia
CBP,CUE
Chest X Ray( pneumonia)
ECG- signs of right heat failure
Liver enzymes elevated
Treatment adviced:
Avoid stress
Do not consume fave beans,sulpha drugs,antimalarials
3. Left sided weakness
Numbness in the left side of face, loss of function on the left side of the body. Left foot started giving out as well as hand.
Investigations to be done:
CT and MRI brain and spinal cord
CSF findings for infections.
4. Sleep deprivation
She was unable to sleep since 1 yr of age ( very less ; 2-4 hrs). With nearly no REM sleep.
But improved since taking L - serine 20 gm at night, ribose 2 fm every hour in water.
Cases may be due to low NADPH, low glycine, lactic acidosis, G6PD deficiency and AMPD1 deficiency.
Investigations to be done:
poly somnography,CT and MRI brain
Treatment:
L-serine
5. Fatigue
Due to G6PD deficiency , there is hemolysisof RBC leading to oxidative stress which causes decreased alertness ans fatigue. Thus exercise intolerance is seen along with muscle pain and cramps.
( If there are any mutations in the G6PD gene, then it changes the structure of the enzyme or decreases its production, due to which this enzyme will not be able to play its protective role. This
results in accumulation of reactive oxygen species and damage or destruction of the red blood cells. Certain factors, such as or ingesting fava beans, certain drugs and infections can also lead to increase
in the levels of reactive oxygen species, which results in faster destruction of the red blood cells
before they can be replaced by the body. Decrease in the red blood cells leads to hemolytic anaemia)
Treatment:
Ribose
Other clinical ailments are:
Multiple ankle joint and fractures which can be attributed to chronic ankle joint instability and osteoporosis.
Attention deficit hyperactivity disorder Sue to ANKK1 gene mutation.
Shortness of breath which can be due to oxidative stress, left atrial enlargement.
Recurrent infections.due to oxidative stress
Reference:-
-Wikipedia
-https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1
I have been given this case 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.
You an find the entire real patient clinical problem in this link below..
https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1
Following is my analysis of the patient's problem:
The problems in order of priority are:
1. Headache
2. Swelling
3. Left sided weakness
4. Sleep deprivation
5. Fatigue
1. Headache- migraine with aura
Severe Headache started at the age of 2 yrs and became worse with menses at age 14 and while on birth control at age 32 caused migraine with aura .Migraine headache is episodic and 20% are classical(associated with aura). Possible reason hemiplegic migraine
Criteria for migraine with aura:
For migraine;
Repeated attaches of headache lasting for about 4-72hrs in patients with normal pe and no other reasonable cause for headache and causes are :
* unilateral headache *throbbing pain* aggravated by movement *moderate to severe intensity and *associated with nausea and vomiting *photophobia and phono phobia.
For aura;
*gradual onset * lasting < 60 min* reversible.
Investigations:
Fundus examination
CSF examination ( any infections)
CT and MRI of brain
EEG for detecting seizures
X-ray of paranasal sinuses ( sinusitis and tumours)
Treatment :
Triptans , anti-epileptics( seizures), and avoid stress and staying In dark room.
2. Swelling
It started at the age of 1 and she still swells up in conditions of emotional stress, smoking, exercise. Swelling is mainly on face, neck and abdomen.
The cause of it may be hemolytic crises on patient due to G6PD deficiency.
Which causes decrease in the levels of NADPH. This NADPH maintains the levels of reduced glutathione which inturn maintains the rbc integrity.
Thus in this deficiency rbc's become fragile and when subjected to oxidative stress undergoes hemolysis. Another cause being kidney failure. Excessive alcohol consumption.
Following are the symptoms suggestive of hemolysis
Coke colored urine , diarrhoea ,vomiting,swelling and acute kidney injury.
She also had infections:recurrent UTI and pneumonia;severe reactions to anti malaria drugs,sulfa drugs and flava beans.
Investigations done are:
Hemogram for anemia
CBP,CUE
Chest X Ray( pneumonia)
ECG- signs of right heat failure
Liver enzymes elevated
Treatment adviced:
Avoid stress
Do not consume fave beans,sulpha drugs,antimalarials
3. Left sided weakness
Numbness in the left side of face, loss of function on the left side of the body. Left foot started giving out as well as hand.
Investigations to be done:
CT and MRI brain and spinal cord
CSF findings for infections.
4. Sleep deprivation
She was unable to sleep since 1 yr of age ( very less ; 2-4 hrs). With nearly no REM sleep.
But improved since taking L - serine 20 gm at night, ribose 2 fm every hour in water.
Cases may be due to low NADPH, low glycine, lactic acidosis, G6PD deficiency and AMPD1 deficiency.
Investigations to be done:
poly somnography,CT and MRI brain
Treatment:
L-serine
5. Fatigue
Due to G6PD deficiency , there is hemolysisof RBC leading to oxidative stress which causes decreased alertness ans fatigue. Thus exercise intolerance is seen along with muscle pain and cramps.
( If there are any mutations in the G6PD gene, then it changes the structure of the enzyme or decreases its production, due to which this enzyme will not be able to play its protective role. This
results in accumulation of reactive oxygen species and damage or destruction of the red blood cells. Certain factors, such as or ingesting fava beans, certain drugs and infections can also lead to increase
in the levels of reactive oxygen species, which results in faster destruction of the red blood cells
before they can be replaced by the body. Decrease in the red blood cells leads to hemolytic anaemia)
Treatment:
Ribose
Other clinical ailments are:
Multiple ankle joint and fractures which can be attributed to chronic ankle joint instability and osteoporosis.
Attention deficit hyperactivity disorder Sue to ANKK1 gene mutation.
Shortness of breath which can be due to oxidative stress, left atrial enlargement.
Recurrent infections.due to oxidative stress
Reference:-
-Wikipedia
-https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1
