A Case of a 42 yr old female with multiple health events.

BY  V.V.SRAVANI

PATIENT CLINICAL DATA ANALYSIS OF "A 42 YEAR OLD WOMAN WITH MULTIPLE HEALTH EVENTS SINCE BIRTH" FROM MY STAND POINT

Here is the link to the original blog post by Dr. Avinash Kumar-
https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1 

PRESENT COMPLAINTS OF THE PATIENT:

1. Swelling

2. Migrane associated with left sided muscle weakness

3.Anhidrosis, oliguria

4.Fatigue

5.Sleeplessness

--SWELLING:

Patient gave history of swelling since one year of age,localized to face and abdomen, which was aggravated by physical exertion(exercise) , smoking , emotional stress. and relieved on rest.

associated with shortness of breath. possible causes for swelling could be 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 deficiencing like severe reactions to sulpha drugs and antimalarials,favism.

Investigations done in this patient:

• 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 suggested

• Avoiding stress
• Do not consume fava beans, sulpha drugs, antimalarials
• Excess salt consumption 

--MIGRAINE

  Patient gave history of migraine since she was two years old. She gave the history of associated left sided weakness, loss of vision, stuttering and memory loss( usually becomes lucid after a short interval) since around 8 years.

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. Possible reason :- hemiplegic migraine

Investigations done;-

--CSF analysis to diagnose infections

--EEG to detect seizures

--CT ,MRI of brain

Treatment modalities:-

-- Triptans

-- Carotid artery angioplasty

-- seizures- antiepileptics

--ANHIDROSIS, OLIGURIA

Patient gave history of anhidrosis and oliguria ,she complained of anhidrosis even in the sauna and in room temperature.Possible causes is believed to be caused due to 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:

--Antimicrobials for kidney infection

--hydration with oral fluids

--corticosteroids like prednisolone

FATIGUE

She gave a past history of fatigue due to which she had to take prolonged periods of rest.Possible causes:- AMPD1 deficiency which led to ATP depletion, oxidative stress from G6PD deficiency.

Treatment :- ribose

                     adequate food intake

                     cut out caffiene

SLEEPLESSNESS:

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

Investigations;- polysomnography

                          CT, MRI brain

Treatment :- L-Serine

                    Cognitive behavioural therapy

• OTHER AILMENTS:-

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

-Behavioural disordersb like anxiety, tempertantrums

-Dark urine probably due to hemolytic crisis

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

References:-

--wikipedia

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