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42 YEAR OLD WOMEN 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

Following is my analysis of this patient's problem:

The problems in order of priority I found 
1.Swelling
2.Headache( Migraine)
3. Muscle weakness 
4. Mouth ulcers
5. Excessive Hair Growth
6. Kidney dysfunction-Oligouria
7.Poor vision
8.Left hand numbness
9. Autism
10. Broken Leg
11. Intolerance to some kind of food

SWELLING
Swelling is present since 1 year age. It is mostly present on face and abdomen. Swelling aggravated on exposure to smoke, emotional stress, physical activity, certain drugs such as sulpha drugs and foods like fava beans
She also presented with severe jaundice at the time of birth. All these features are seen in Oxidative stress.

KIDNEY DYSFUNCTION-OLIGOURIA
It is also seen in Oxidative stress

DIAGNOSIS
GENETIC DISORDER- G6PD DEFECIANCY
Decreased levels of G6PD
Decreased NADPH
Decreased production of reduced glutathione
Increase in free radicals
Oxidative stress
 
Increased free radicals
Homolysis
Haemoglobin molecules gets damaged
Damaged Haemoglobin precipitates inRBC leading to formation of Heinz bodies 
Macrophages recognize the Heinz bodies and engulf them leading to the formation of Bitecells.
Often only old RBC are at risk of Lysis therefore Hemolytic episodes are limited when young RBC are formed 
AGGIVATING FACTORS
foods like- Fava beans
Drugs-Anti Malarial
Infections
Smoke
Exertions

INVESTIGATIONS
COMPLETE BLOOD PICTURE
1. Decrease in HB
2. Increase in Reticulocyte
3. Inc in LDH
4. Inc in Bilirubin
5. Dec in Haptoglobunin

PERIPHERAL SMEAR
1. Bite cells
2. Heinz bodies

ENZYME DETECTIONS
1. G6PD level detected

GENETIC TEST
She underwent Genetic testing at age 33and was confirmed by G6PD defeciancy

TREATMENT
1. Salt restriction
2. Ribose intake- swelling
3. Anti oxident vitamins

SEVERE HEADACHE, LEFT HAND NUMBNESS, POOR VISION

DIAGNOSIS- HEMIPLEGIC MIGRAINE
mutations in genes can lead to break down of body's ability to make certain proteins without which nerve cells have trouble in sending or receiving signals(Serotonin) 

AGGIVATING FACTORS
1. Intense physical activity
2. Travelling
3. Exposure to smoke
4. Stress
5. Use of birth control pills

INVESTIGATIONS
1. CT& MRI

TREATMENT
1. Tritans- Migraine
2. CGRP inhibitors

MUSCLE WEAKNESS

DIAGNOSIS
1. AMPD-1 Defeciancy 
It is an autosomal recessive disorder this Gene makes enzyme AMP deaminase which plays role in producing energy in skeletal muscles mutations in this Gene disrupts energy mechanism in skeletal muscles

INVESTIGATIONS
1. Genetic test- diagnosed for AMPD-1 Defeciancy heterozygous 

TREATMENT
1. Ribose-2gm every hour in water 
2. Citrate mono hydrate 

MOUTH ULCERS

DIAGNOSIS
Behct's disease
It is a rare disorder that causes blood vessel inflammation throughout the body. It presents as mouth ulcers, eye problems, skin rashes and joint pains

INVESTIGATIONS
1. Mouth sores which has recurred in 3 times in 12 months
2. Blood test
3. Pathergy test
4. Genetic testing

TREATMENT
1. Colchicine
2. Cortico steroids
3. Medication that suppress immune system

EXCESSIVE HAIR GROWTH

DIAGNOSIS
1. Congenital adrenal  hyperplasia
2. PCOS

INVESTIGATIONS
1. Cortisol level- elevated
2. CT scan- showed multiple ovarian cysts

TREATMENT
1. Spironolactone
2. Eflornithine
3. Anti androgens
4. Electrolysis





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