given a case of 42yr old female with multiple health events

I've 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 can find the entire real patient clinical problem in this link here..

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

Following is my analysis of this patient's problem:

The problems I found are

1.frequent falls to left(left limb and foot gave out)

2.migraine with aura and cognitive impairment

3.breathing difficulty 

4.swelling mainly over abdomen and face

5..salt craving

6.reduced urination and reduced sweating

7.decreased exercise intolerance

8.sleep disturbances

9.increased tolerance to pain

Others:-rash on face

             -PCOS

             -Bipolar disorder,anxiety,depression

Presently having:oral ulcers and vaginal ulcers

Reasons for 

▪︎FREQUENT FALL TO LEFT(left hand and left foot gave out)and numbness of left hand and face:

So prblm could be in right hemisphere may be a

 -Space occupying lesion or 

-brain infection

•Investigations required:CT,MRI of brain,CSF analysis(to rule out infections)

•Treat accordingly to diagnosis

▪︎MIGRAINE WITH AURA and COGNITIVE IMPAIRMENT:

-Hemiplegic migraine

-Brain tumors

-Transient ischemic attack(TIA)--Can be ruled out as headache is less frequent in TIA

-Homocystinemia(given that MTHFR mutation +ve ,so high homocystine which can damage nervous system and lead to cognitive impairment)

-Cognitive systems could also be because of demyelination (MTHFR mutationlead to low b12 levels)

•Investigations required:CTscan,MRI scan,

(Genetic test for MTHFR already done)

•Treatment:continue Triptans for migraine ,avoid stress

Give B6,B12, Folate for homocystinemia

▪︎BREATHING DIFFICULTIES:As she had pneumonia and bronchitis (due to immunodeficiency)or 

Shortness of breath can also be due to hemolysis of RBC due to G6PD deficiency 

•Investigations :X-ray of chest, CBP

•Treatment:Avoid triggering agents for hemolytic anemia due to G6PD deficiency,

Antibiotics if required.

▪︎SWELLING OVER ABDOMEN AND FACE,SALT CRAVING,REDUCED URINATION,POOR STRESS TOLERANCE:

All these are due to G6PD deficiency.Triggers like Infections,food like fava beans,drugs like aspirin(NSAIDS),primaquine,Sulfa group, environmental pollutants,stress etc .as g6pd enzyme is deficient, they increases the oxidative stress and RBC membrane protecting function is lost leading to hemolysis.If intravascular hemolysis is severeit leads to acute kidney failure(acute kidney necrosis).hence reduced urination and fluid retention in body -->swelling.

As NAPDH is not generated due to g6pd deficiency, active absorption of ions in kidney is affected. Hence there is loss of sodium leading to salt craving.

Dark urine due to hemolysis.

Differential diagnosis could also be :Angioedema 

•Investigations:Hemogram,bilirubin levels,

Direct coombs test(to know autoimmune or non-autoimmune mediated hemolysis),

skin test for angioedema 

•Treatment:Avoid triggering factors,cimetidine as she found it useful.

▪︎REDUCED SWEATING and INCREASED TOLERANCE TO PAIN since childhood:may be -CIPA-Congenital Insensitivity to Pain and Anhydrosis

•Investigations:Genetic testing for NTRK1gene mutation

•Treatment:No specific treatment, 

Take care of injuries if any.

▪︎DECREASED EXERCISE TOLERANCE:

-G6PD deficiency-->more oxidative stress from Reactive oxygen species due to exercise

-AMPD1 deficiency-->lack of generation of ATP--> weakness of muscles and fatigue on exercise

•Investigations:already genetic testing done for G6PD and AMPD1 gene mutations

•Treatment:Continue Ribose before exercise. 

and also daily if required. 

▪︎ SLEEP DISTURBANCES:

-G6PD deficiency -->impaired glycolysis-->decreased glycine

AMPD1 deficiency-->low adenosine -->lack of sleep

•Investigations:Already done

•Treatment:continue L-serine which is like glycine and increases serotonin levels-->sleep

Cimetidine also helps.

▪︎RASHES:

-SLE

-Behcets disease

•Investigations:Fluorescent antinuclear antibody test.

▪︎PCOS:caused dysmenorrhea, hair loss,ectopic pregnancy

•Treatment:hormonal therapy (monitoring is required)

▪︎ORAL ULCERS,VAGINAL ULCERS,POOR VISION(uveitis),PERSONALITY CHANGES,NAUSEA,DIARRHEA:

https://en.m.wikipedia.org/wiki/Beh%C3%A7et%27s_disease

-Behcets disease(confirmed)

•Treatment:lidocaine washes for oral ulcers if not allergic,topical corticosteroids ,oral corticosteroids can also be used( but ca cause osteoporosis),Colchine in g6pd deficiency??

Cognitive behavioral therapy.

▪︎BROKEN ANKLE WHILE DANCING:fracture may be due to osteoporosis. So 

•Investigations:Calcium levels,Vit D,PTH levels.

•Treatment:according to findings from investigations. 

References:wikipidia