a 42 yr old female with multiple health events since birth

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This is a case of 42 yr old women with multiple health events since birth. Her entire case details with history, diet , clinical features and investigations are described briefly in the link below.

 https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1.

So based on the data provided,  my clinical analysis of the patient is as follows:
She had
1.Reduced sleep i.e.2 to 4 hrs a day, without REM, for which L Serine and cimetidine were used and had a better sleep of 7 to 8 hours with REM.
2. UTI's :Streptococcal throat infection, which may the reason for kidney infection (PSGN), or her Tipped uterus can be her reason for recurrent UTI'S, which may have progressed retrogradely and might have caused kidney infection .
3.Headache: the severe headache was diagnosed as Migraine with aura at the age of 32. Might be due to her decreased sleep and anorexia, for which she has been using TRIPTANS.
4.Mood disorders were present since birth: temper tantrums, irrational anxiety, extreme anger when forced to eat, attempt to suicide/Autism/ADHD.
5.Sensory disorder: clothes and physical contact were unbearable , she had higher pain tolerance, but can't focus on pain. 
6. She was diagnosed having Hemolytic anemia which may be due to G6PD deficiency, but her bile profile, hemoglobin,  red blood cell count were normal.
7.AMPD1 deficiency 
8.Multiple sprained ankles and knees since age 4, and had a leg fracture at a age of 30.
9.Rashes on face(2-4 times a year), along with other issues and at the same time warts and EBV reactived. EBV may explain some of her pre malignant lesions. EBV may cause dermatomyositis which may be responsible for her ankle sprains and skin rash.
10.Swelling on face, neck and abdomen with intake of any food, smoking or even with slightest exercises and stress. The swelling reduces a lot by decreasing her weight by about 10 to 15lbs, by fasting and during this time she urinates a lot,but she almost never sweats.Ribose and Cimetidine relieved from this swelling issues.
The pt also had PCOS and an ectopic pregnancy. 
11.Lung infections at age of 4 and 24, vaccinated for pneumonia at 28.
12.left side hemiparaesis with stuttering and memory loss, would come and go for a month. Falling and spinning sensation when turned face towards left side for 2 weeks.
13. Recently diagnosed for BECHETS DISEASE , which may explain the Migraine. 
 
FAMILY HISTORY 
Both parents were chain smokers.
Mother has diagnosed for fibromyalgia, which may raise a suspicion of fibromyalgia in our patient, coz of the symptoms(altered sleep, mood disturbances, muscle weakness) and risk factors (female preponderance, family history)
Father had a heart attack at the age of 40.
Grand father had an early death due to some cardiac issues.
Grand mother had an issue of waking up during the surgery,  which is also seen in our patient.

GENETICS  
Here profile shows
Increased risk for Alzheimers, ADHD, Autoimmune thyroid & other autoimmune disorders, lung cancer, cluster headache, Obesity, raised ICP, Diabetes, RA, Bipolar disorders, Lung cancer and issues.

Allergic history: pt is allergic to fava beans, sulfa drugs. Had a severe reaction to anti malarials.

 Present treatment 
1.L serine 20 gm at night.
2.Ribose 2 gm every hour in water.
3.Cimetidine 400 mg
4.NAC 600 mg
5.Iron folate 500 % of RDA.


It is a genetic disorder so no cure.

Treatment of symptoms(palliative treatment) can be done.

Avoid triggers like oxidants .

If Hemolytic episode is seen then hydration followed by blood transfusion based on severity of anemia.

Some of the treatment options:

1- Ribose diet
2- L serine for sleep
3- cutting oxidative stress 
4.vitamin B complex
5.antioxidant vitamins
6.fructose+antioxdants 
7 salt + butter
8.keto diet.
9. iron folate supplemets.
10. antioxidant supplement pycnogenol 
11.cimetidine for swelling - tried and helped
12. NAC 

Advice: advanced Diagnostic modality like Whole genome sequencing must be done.

Queries!!
1.Why is the excessive salt intake not causing any symptoms of hypernatremia?
2. As given in the above case how the excessive ions are lost from the body when there is no sweating and decreased Urination?
3.Why is there a excessive hair growth in child hood and hair loss on head and eyebrows at present?
4.Why wasn't the fluid ran out of her left nostril after she heard a loud POP in her head, not explained or examined? Was it irrelevant ?

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