A 42 year old female patient with multiple health events since birth

I have 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, investigation s  and come up with a diagnosis and treatment plan

My analysis of the patient problem s

Problems in the order of priority

1. Swelling of face& abdomen

2. Headache (migraine)

3. Sleep deprivation

4. Excercise induced fatigue

5. Left sided weakness

6.oliguria

7.rashes

My analysis of the problem s

1.swelling of face and abdomen

Swelling stated at the age of 1year and the patient is still suffering from swelling in some conditions like...emot emoti stress,eating some foods which are incompatible for her

It might be due to progression of G6pd in to haemolytic crisis

G6PD  defeciency:

 It is a X linked inherited disease.in G6pd defeciency hmp shunt pathway effected leading to decrease in production of NADPH.nadph maintain the reduced glutathione levels which maintains the integrity of the RBC

In G6pd defeciency of reduced glutathione are less and it leads to fragility of RBC inturn leads to haemolysis

Differential diagnosis for swelling

. Cardiac failure.

. Kidney problems.

. Chronic anemia

Trigger ING factors

1.foods_ fava beans

2. Drugs- antimalarial

3. Infections

4. Smoke

5. Exertion

Investigation s

Complete blood picture

Peripheral smear

Enzyme detection -g6pd level detected

Genetic testing

Treatment :

. She is on ribose for swelling

. Avoid exposure to triggering factors

. Salt restriction

. Blood transfusion

. Anti oxidant s vitamins

2.Headache( migraine )

She has severe headache since 2yrs . which is sudden in onset and very severe.she develop s aura before develop ING headcheese

Aura.. she develop s rainbow colours, temporary blind Ness

.left hand numbness

. Fall in to left side (ataxia)

.skittering of speech

.vertigo

Diagnosis

Above complaints are suggestive of hemiplegia

Migraine. Triggering factors for this ,

.  Intense physical activity

. Skipping of meals

. Travelling, exposure to smoke

. Stress

. Use of birth control pills

. Decreased sleep

Investigation s

1. CAT & MARI

2. Tests of heart and blood vessels to rule out blood clots

Treatment:

 She has taken  Tripitans  for migraine other medication s can be used are CGRP inhibitors

3. Sleep deprivation

Onset since birth

Duration of sleep 2 to 4 hours and,noREM sleep

Possible causes

1. AMPD1 defeciency can cause sleep disturbances because adinosine is an inhibitory neurotransmitter,so it should help in sleep

2. G6PD defeciency  impaired in glycolysis so glycine is not formed well

Treatment taken by her

. L serine  work like glycine in brain so it helps for better sleep

. Cimetidine

4. Left side d weakness

.numbne nu in left side of face

 .loss of function on left side of body

She had this type of weakness at the time of migraine attack

Possible diagnosis: hemiplegic migraine

5. Oliguria

. Due toG6PD defeciency there is oxidative stress causing kidney damage

Because reduced production of NADPH &ATP and leads to loss of ions and decreased urine production

. It may due to WNK1 gene mutation, kidney infections

 Investigation s

1.  Complete urine examination

2. USG

 6. Rashes

She was diagnosed as BEACHET syndrome,which is an auto immune disorder which causes vasculitis,rashes, blurred vision due to improper blood supply to optic nerve

Investigation s

1. Pathergy test

 2. OCT

3. Skin price test

Patient with other problems

. fracture s

. Pcod

. Loss of hair

. Excessive growth of hair on body.

. Osteoarthritis

. An hydrosols due toWNK1 gene mutation