A case of a 42 yr old female with multiple health events since birth.
Presented by: Y. Srinidhi Reddy
Roll no.182 8th semester
I have been given this case to solve and interpret to enhance my competency and as an attempt to understand the topic of "patient clinical data analysis". You can find the entire clinical problem of the patient in this link
This is my understanding of the case:
The problems that I found she was battling with the most are :
1. Swelling
2. Migraine associated with left sided weakness
3. Anhydrosis / oliguria
4. Fatigue
5. Sleeplessness
1. 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.
Reason? 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
- Favism
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
2. Migraine associated with left sided weakness
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.
Reason? probably Hemiplegic migraine
Investigations
CT, MRI
CSF Analysis to diagnose infections
EEG to detect seizures
Treatments
Triptans
Carotid artery angioplasty
Antiepileptics
3.Anhidrosis / Oliguria
The patient gave history of anhidrosis and oliguria. She complained of anydrosis even in the sauna and not only at room temperature.
Reasons? 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
Corticosteroids like prednisolone for anhydrosis
4. Fatigue
She gave a history of fatigue due to which she had to take prolonged periods of rest.
Reason? AMPD1 deficiency which led to ATP depletion
G6PD deficiency which led to oxidative stress
Treatment
Ribose
Eat adequate foot
Cut out caffeine
5. Sleeplessness
Patient complains of reduced sleep of 2-4 hrs duration since birth.
Reason? AMPD1 deficiency
Investigation
Polysomnography
CT/ MRI brain
EEG
Treatment
L-Serine
Cognitive Behavioural Therapy
Other Ailments
- Multiple ankle joint sprains and fracture
Reason? maybe Chronic Ankle Joint Instability
maybe Osteoporosis
- ADHD/Autism spectrum
Reason? ANKK1 gene mutation
-Shortness of breath
Reason? maybe Oxidative stress
maybe Hiatal hernia
maybe Probable left atrial enlargement
-Rash on face
- Reccurent infections
Reason? maybe Oxidative stress due to G6PD deficiency
- Dark urine
Reason? maybe hemolytic crisis
-Mouth ulcers, Genital ulcers and failed LASIK surgery
Reason? Attributed to BEHCET's disease which was recently diagnosed.
Reference
1. Wikipedia
2.https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1
