I have been given this case to solve in an attemot to understand the topic of "patient clinical data analysis"to develop my competency in reading and comprehending clinical data icluding history,clinical findings,investigations and come up with a diagnosis and treatment plan.
A 42year old female patient came with complaints of
- Frequent Falling towards left side
- Swelling
- Headaches
- Sleep Disturbances
- less urination which increase when fasting.
- Fatigue
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.
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.
Throbbing pain.
Aggravated by movement.
Moderate to severe intensity.
plus atleast 1 of the following:- Nausea and vomiting
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 Disturbances
- Onset - since birth
- Duration of sleep - 2-4 hours and no REM sleep
- increased sleep when taken antimalarials in ethiopia
- caffiene does not help her stay awake but in turn she falls asleep
- improved on taking L-serine 20gm at night
- cimetidine also helped
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.
OTHER PROBLEMS:
- PCOS has led to:
- Dysmenorrhoea
- Hair Loss
- Ectopic Pregnancy
- Potential sensory disorder
- Severe Mood disorder
- Rashes on face-could be due to SLE
- Anxiety, depression, ADHD, Autism spectrum
FAMILY HISTORY:
- Mother was diagnosed for fibromyalgia.
- Father had heart attack in 40s
Investigations:-
- Complete blood picture
- Hemogram -shows anemia
- SGPT and SGOT - are usually elevated in a case of hemolysis
- CT and MRI of brain
- EEG
- CSF analysis - to rule out infections
- Magnetic resonating angiography for TIA
- Chest X-ray Left atrial enlargement in this case
- Brain natriuretic
- CT and MRI of brain
- EEG
- CSF analysis - to rule out infections
- Magnetic resonating angiography for TIA levels to rule out heart failure
Treatment:-
Since it's a genetic condition there is no cure rather symptomatic treatment
- Avoid oxidants
- For hemolytic anemia: blood transfusion based on severity of anemia.
- Ribose diet-to reduce weakness
- L-serine for sleep disturbances
- Cimetidine for swelling
- cut down oxidative stress
- Antioxidants
- NAC
- Iron folate supplements
- Salt intake
References
- https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1
- https://ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency#genes
- https://ghr.nlm.nih.gov/condition/adenosine-monophosphate-deaminase-deficiency#diagnosis
- https://www.mayoclinic.org/diseases-conditions/migraine-with-aura/diagnosis-treatment/drc-20352077
Wikipedia
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