A case of 42yr old female with multiple health events.

Name -k.swarnamukhi

Roll no:198

A case of a 42 year old female was given with multiple problems since childhood in an attempt to understand the topic of "patient clinical data analysis". she was diagnosed with G6PD deficiency and AMPD1 deficiency.

 

The problems in priority I found are :

1. Swelling of face and abdomen 

2. Migraine associated with left sided weakness

3. Anhydrosis / oliguria

4. Fatigue

5. Sleeplessness

 

Swelling 

The patient gave a history of swelling since she was 1yr of age. She gave the complaints of abdomen and face swelling which led to a weight gain of 25lbs in 2 weeks which was followed by a loss of 10-15 lbs after 2 days of fasting when she was 12 yrs old. She complained of fluctuating swelling on and off.

-swelling is aggravated by stress, exercise, eating the wrong thing, smoke etc.

-relieved by cimetidine and rest.

-could be Hemolytic anemia due to G6PD deficiency

G6PD deficiency is a genetic abnormality that leads to a decreased amount of G6PD, that is required for production of NADPH that is required to prevent oxidative stress due to free radicals. The hemolysis might also be responsible for congestive heart failure. The oxidative stress in the kidney might also lead to ion imbalance leading to the swelling in the patient. These might be the underlying pathological reasons. 

Acute episodes of hemoyltic crises can be attributed to G6PD deficiency like

     - Severe reaction to sulpha drugs and anti malarials

Investigations 

Complete blood count and reticulocyte count

G6PD enzyme levels

Lactate dehydrogenase levels

Indirect and Direct Bilirubin 

Serum Haptoglobulin

Urinalysis for hematuria

Urinary Hemosiderin

Peripheral Blood smear

Treatment

Avoid aggravating factors

Take adequate rest 

Cimetidine 

Migraine associated with left side weaknesses 

The patient gave the history of migraine since she was 2yrs old. She gave the history of associated left sided weakness, loss of vision, stuttering and memory loss( she usually becomes lucid after interval) since around 8 yrs. The migraine is associated with aura in the form of zig zag lines and colors and rainbows. There is history of CSF rhinorrhea from the left nostril. She gave history of increased tolerance to pain pertaining to migraines.

- probably Hemiplegic migraine

Investigations :

CT, MRI

CSF Analysis to diagnose infections

EEG to detect seizures

Treatments:

Triptans

Carotid artery angioplasty

Antiepileptics

Anhidrosis / Oliguria

The patient gave history of anhidrosis and oliguria. She complained of anydrosis even in the sauna and not only at room temperature.

- G6PD deficiency leading to oxidative stress in the kidney causing ion imbalance.

                Horner syndrome

                Bell's Palsy

Investigations 

Oliguria- Renal ultrasonography

               Voiding cystourethrography

Anhidrosis- Sweat test

                    Skin biopsy

Treatment 

Antimicrobials for infection

Rehydrate with IV fluids