A Case of a 42 yr old woman with multiple health events

I have been given this case to solve in an attempt to understand the patient clincal data analysis in order to develop my competency in reading and comprehending clinical data including history, clinical findings, investigations and come up with a diagnosis and a treatment plan.

Here is the link to the original blog 

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

After going through the entire history and events that took place since birth here are my thoughts 

The problems faced by the patient in order of priority that i found are:

1. swelling- abdomen and face

2.fatigue

3.migraine attacks and frequent fall on the left side 

4.sleeplessness

5.oilguria

   The causes of each of the above complaints can be numerous. 

1. SWELLING

 History of swelling since one year of age-localized to face and abdomen

Aggravated factors: physical exertion, smoking , emotional stress associated with shortness of breath and relieved on rest. 

 Causes for swelling:  hemolytic anemia, oxidative stress

G6PD, which is the first and major step in the production of NADPH which is required for scavenging free radicals to prevent oxidative stress, is deficient in this patient and hemolysis might be responsible for congestive heart failure, oxidative stress in the kidney might also lead to ion imbalance leading to swelling in the patient which can be underlying pathological reasons. acute episodes of hemolytic crisis can be attributed to G6PD deficiency like severe reactions to sulfa drugs and antimalarials,favism.

Investigations

• Hemogram - depicts anemia
• CXR - Left atrial enlargement
• ECG - signs of Right Heart Failure
• SGPT, SGOT - elevated in this case suggestive of hemolysis
• COMPLETE URINE EXAMINATION to check for any infection
• Total Bilirubin - should be elevated 

Treatment

• Avoid stress
• Do not consume fava beans, sulfa drugs, antimalarial
• Excess salt consumption

2.FATIGUE

 Causes: AMPD1 deficiency which led to ATP depletion, oxidative stress from G6PD deficiency.

Treatment : ribose

                     adequate food intake and no caffeine

                  

3.MIGRAINE AND WEAKNESS ON LEFT SIDE

Numbness in the left side of face, loss of function on left side of body, which are majorly occurring at the time of migraine attacks. 

PROBABLY could be due to HEMIPLEGIC MIGRAINE.

other causes:

• Infections like meningitis, encephalitis (but she doesn't have a fever, rash).
• Brain tumors
• Seizures with post-ictal paralysis
• Mitochondrial Encephalopathy Lactic Acidosis and Stroke like episodes

Migraine was associated with aura in the form of zigzag lines and colors and rainbows, also she had a CSF rhinorrhea from her left nostril.she gave history of increased tolerance to pain pertaining to migraine. 

Investigations-

--CSF analysis to diagnose infections

--EEG to detect seizures

--CT ,MRI of brain

Treatment

-- Triptans

-- Carotid artery angioplasty

-- seizures- antiepileptics

4. SLEEPLESSNESS

History of reduced sleep for 2-4 hrs duration since birth. Possible reasons;- AMPD1 deficiency

Causes:

• G6PD Deficiency impaired the glycolysis so glycine is not formed well . Glycine is also an inhibitory neurotransmitter.
• AMPD1 Deficiency can cause sleep disturbances because Adenosine is an inhibitory neurotransmitter so it should help in sleep.

Investigations;- polysomnography

                          CT, MRI brain

Treatment :- L-Serine

                    Cognitive behavioral therapy

5.OLIGURIA

Patient gave history of anhidrosis and oliguria ,she complained of anhidrosis even in the sauna and in room temperature

CAUSE:  mostly due oxidative stress in the kidney causing ion imbalance  caused due to G6PD deficiency, bell's palsy,Horners syndrome

INVESTIGATIONS:

-- Renal ultrasonography

-- Voiding cystourethrography

-- sweat test 

--Skin biopsy

TREATMENT MODALITIES:

--Antimicrobial for kidney infection

--hydration with oral fluids

--corticosteroids like prednisone

OTHER COMPLAINTS

- Multiple ankle joint sprain and fractures which can be attributed to chronic ankle joint instability and osteoporosis

-Attention Deficit Hyperactivity Disorder- due to ANKK1 gene mutation

-Shortness of breath which can be due to oxidative stress, hiatal hernia and probable left atrial enlargement 

-Recurrent infections due to oxidative stress

-Behavioral disorders like anxiety, temper tantrums

-Dark urine probably due to hemolytic crisis

-Mouth ulcers, genital ulcers, failed LASIK surgery which can be attributed to Behcet's,recently diagnosed

REFERENCES

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