GmM case discussion
CASE DISCUSSION
BY
N.DURGA MAHADEV
ROLL NO - 118 (8TH SEMESTER)
You can 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)
Coming to the details
A 42year old female patient,came with severe edema along with G6PD& AMPD1 deficiency.
Chief Complaints
- Frequent Falling towards left side (left sided weakness)
- Swelling
- Headaches
- Sleep Disturbances
- less urination which increase when fasting.
- Fatigue due to Excersice
Reasons for the above problems
1.Frequent falling towards left side
the patient currently complains of frequent falls to the left. Left foot and left hand started giving out.
Unbearable feeling of spinning when turned to left.
Severe cramping of left arm
Sometimes complete loss of function on the left side.
Numbness of left hand and feeling of someone pouring ice Water over left face during migraine attacks.
- This might be due to muscle weakness caused my AMPD1 deficiency
- Hemiplegic migraine is another probable diagnosis
2.Swelling
- Since she has hemolytic anemia , she could have Right Heart Failure which is responsible for ascites and shortness of breath (because of Pulmonary artery hypertension).
- And the hemolytic anemia could be responsible for her kidney infection because G6PD is responsible for production of NADPH. And since she has deficiency of G6PD, She does not have enough NADPH and ATP which resulted in loss of lots of ions thereby causing decrease in urination and Facial edema. ( refer to edited paragraph -1 )
- It increased on emotional stress and eating fava beans because she has G6PD Deficiency.
- Her shortness of breath could also be attributed to hiatal hernia.
- Dark urine on exercise is suggestive of hemolysis which could be due to G6PD deficiency.
3.Headache
Severe headaches started at the age of 2 and became worse with menses at age 14.
Attacks increased in severity over time.
They are preceded by aura mainly visual.
MIGRAINE
Migraine headache is episodic and 20% are classical (associated with aura).
DIAGNOSTIC CRITERIA FOR MIGRAINE:
Repeated attacks of headache lasting for 4-72 hours in patients with normal physical examination and no other reasonable cause for headache and atleast 2 of the following:
- Unilateral headcahe.
- Throbbing pain.
- Aggravated by movement.
- Moderate to severe intensity.
plus atleast 1 of the following:
- Associated nausea and vomiting.
- Photophobia and phonophobia.
CHARACTERISTICS OF AURA:atleast 3 of the following:
- Gradual onset.
- Lasting <60 minutes.
- Fully reversible.
- Followed by headache within 60 miuntes or headache simultaneously with aura.
- Not attributable to other disease.
4.Sleep Distuebances
- Onset - since birth
- Duration of sleep - 2-4 hours and no REM sleep
Possible causes :
- AMPD1 Deficiency can cause sleep disturbances because Adenosine is an inhibitory neurotransmitter so it should help in sleep.
- G6PD Deficiency impaired the glycolysis so glycine is not formed well . Glycine is also an inhibitory neurotransmitter.
Treatment taken by her :
- L serine : works like glycine in brain so helps in better sleep
- Cimetidine
5.Less Urine Output
dont know the exact reason, may be due to G6PD deficiency and ion imbalance
6.Fatigue
ADENOSINE MONOPHOSPHATE DEAMINASE 1 DEFICIENCY
Excess adenosine causes decreased alertness and fatigue.
Exercise intolerance,muscle pain,muscle cramping are seen.
SUGGESTED TREATMENT
Ribose (0.2 g/kg) daily and hourly dosing provides direct source of energy for cells in cases of exertion.
OTHER PROBLEMS :
1. CERVICAL DEGENERATION AND SCOLIOSIS SEEN ON X-RAY
2.ECTOPIC PREGNANCY AT AGE 21
3.MULTIPLE OVARIAN CYSTS. DIAGNOSED WITH PCOS AT AGE 22
4.INCREASED TOLERANCE TO PAIN- WNK 1 MUTATION
5. FAILED LASIK SURGERY
6.RECURRECT INFECTIONS
7. EXCESSIVE HAIR LOSS
8. MFTR MUTATION- increased homocysteine and decreased folate and b12 levels
Treatment :
As this is a genetic problem treatment will be mostly symptomatic soo there is no permanent cure
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