A case of 42 year old female with multiple health events since birth:

A 42 year old female presented with multiple health events since birth
CHIEF COMPLAINTS:
1.Swelling - face and abdomen
2.sleep disturbances
3.Fatigue
4.reduced urine output with dark colored urine.
Elaboration of complaints :
Swelling:
Site - face and abdomen
Aggrevating factors - emotional stress, smoke, exercise,eating wrong food.
Relieving factors - rest
Possible causes:
Allergic reaction to food like fava beans.
Kindey infection.
Chronic anaemia.
G6pd deficiency.
Hypothyroidism.
Cushing syndrome.
Investigation:
Complete blood picture.
Hypersensitivity testing for allergy.
Renal functional test.
Thyroid profile.
Thyroid function test.
Treatment : 
Avoid the possible allergen.
Avoid stress.
Sleep disturbance:
Onset - since birth
Duration of sleep - 2 to 4 hrs with no REM .
Possible Causes:
Adenosine monophosphate 1 deficiency
G6PD deficiency
Psychiatric problems
Treatment history: 
L- serine 20gm at night.
Ribose .
Fatigue:
Aggravated on exertion.
Relieved on rest.
Possible causes:
Hemolytic anaemia.
G6pd deficiency.
AMNP1  deficiency.
Starving.
There is reduced urine output with dark urine .it may be due to g6pd deficiency as there is hemolysis occururing due to destruction of RBC leads to dark colored urine.
Past history:
At birth -severe jaundice,tongue tie and upper lip tie.
At 2 years- onset of severe headache
At 4 years-Chronic UTI
                   Kidney infection
                   Lung infection
                   Multiple sprained ankle and  knee.
Severe mood disorder is seen.
At 12 years-diagnosed for cervical degeneration and scoliosis is seen.
At 15 years- suicidal tendencies present.
                     Diagnosed with anorexia
At 30 years-H/O of broken leg(??)
At 32 years- infected with swine flu.
At 34 years-Severe headache on left side which lead to vision loss.
Intermittent loss of function of left arm.
At 35 years- diagnosed with ADHD/autism spectrum disorder.
One year ago- h/o of fall - broken left ankle
Obstetric history:
H/o of ectopic pregnancy.
Menstrual history:
Menarche -14 years
During mensus severe headache and abdominal pain.
Diagnosed with PCOD.
Family history: 
Mother had fibromyalgia.
Father got heartattacks in early 40's
Drug history: 
Allergic to sulfa drugs and antimalarials .
Surgical history: 
LASIK done at 35 yrs is failed and diagnosed as dyslesic.
Personal history
Apple once a day
Sleep: inadequate
Bowel/ Bladder movements: regular
Appetite: reduced
No addictions
Investigatios done:
MRI and CT of spine
Test for EBV- inactive.
Cortisol level - high DHEAS ,high 17-hydroxy pregnenolone
ECG impression - sinus tachycardia 
Complete blood picture
Lipid profile 
* 1 year ago diagnosed with AMNP1 deficiency and G6PD deficiency
* Recent update she was diagnosed with BEHCET'S DISEASE.
Treatment :
Symptomatic treatment done.
Avoid triggers like Oxidants.
Ribose diet
L- serine for sleep
Avoid stress
Iron and folate supplements.
Advice:Advanced diagnosed modality like whole genome sequencing must be done.

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