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"todevelop my competency  in reading and comprehending  clinical data including  history, clinical findings, investigations and come up with a diagnosis and treatment plan.

My analysis of the patient\"s problems:-

problems in the order of priority....

1.Swelling of face and abdomen

2.Headache(migraine)

3.sleep deprivation

4.Excecise induced fatigue

5.Left sided weakness 

6.oliguria

7.Rashes.

My analysis of the problems:-

1.Swelling of face and abdomen

swelling started at the age of 1 year and the patient is still suffering from swelling in some conditions like....

emotional stress,eating some foods which are uncompaitable for her ,smoking etc.

It might be due to progression od G6PD  into haemolytic crisis.

 

G6PD DEFICIENCY:-

It is a X-linked inherited disease. In G6PD deficiency HMP shunt pathway is affected leading to decrease in production  of NADPH.NADPH maintains the  reduced gluthathion levels which maintains the integrity of the RBC.

In G6PD deficiency levels of reduced gluathione are less and it leads to fragility of RBC inturn leads to haemolysis.

 

Differential diagnosis for swelling:-

. Cardiac failure

.kidney problems

.chronic severe anaemia.

Triggeing factors

1.Foods---fava beans

2.Drugs--antimalarials

3.Infections

4.Smoke

5.exertion.

Investigations:-

Complete blood picture

peripheral smear

Enzyme detection - G6PD level should be detected.

Genetic testing.

Treatment:-

1.she is on RIBOSE    for swelling.

2.Avoid exposure to triggering factors

3.salt restriction

4.Blood transfusions 

5.Antioxidants vitamins

2.Head ache (migraine)

She has severe haed ache since 2 yrs of age . Head ache is sudden in onset and very severe.she develops Aura before developing headache.

Aura..... she develops rainbow colors , temporary blindnes.

Left hand numbness 

fall into left side (ataxia)

stuttering of speech

vertigo

Diagnosis:

Above comlpaints are suggestive of  hemiplegia migraine. 

Triggering factors for migraine: 

Intense physical activity

skipping of meals

travelling

Exposure to smoke

stress

use of borth control pills 

decreased sleep.

Investigations: 

1.CT and MRI 

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

  

TREATMENT:-

 She has taken TRIPTANS  for migraine

Other medications can be used are: CGRP inhibitors.

3.Sleep deprivation:-

onset.... since birth

Duration of sleep .... 2 to 4 hrs and No REM sleep.

 

possible causes

1.AMPD1 deficiency can cause sleep disturbances because adenosine is an inhibitory neurotrasmittor so ot should help in sleep.

2. G6PD deficiency impaired in glycolysis so glycine is not formed well. Glycine also an inhibitory neurotransmitter

TREATMENT TAKEN BY HER:--

1.L-serine ---- works like glycine in brain 

so it helps in better sleep.

2.Cimetidine

4. Excercise induced  fatigue

possible causes: 

1.AMPD1 Deficiency 

Lack of ATP  hence the person gets easily tired.

2.Oxidative stress

from excess of free radicals because of G6PD deficiency

3.past history 

shows parents to be chain smokers which increases the oxidative stress

TREATMENT GIVEN:-

1.RIBOSE..... helped her too  because it provides ATP.

5.Left sided weakness

 Numbness in left side of face

Loss of function on left side of the body.

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

POSSIBLE DIAGNODIS:-

Hemiplegic migraine.

6.Oliguria

1.Due to G6PD deficiency there is oxidative stress causing kidney damage.

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

2.It may be due to WNK1 gene mutation, kidney infections 

 INVESTIGATIONS:---

1.complete urine examination

2.USG

 7.Rashes

 She was diagnosed as BACHETS syndrome, 

which is an autoimmune disorder, which causes Vasculitis, rashes, blurred vision due to improper vlood supply to optic nerve.

INVESTIGATIONS:--

1.Pathergy test

2.OCT

3.skin prick test.

Other problems:---

1. PCOD

2.Fractures

3.loss of hair

4.Excessive growth of hair on the body

5.osteoarthritis

6.Anhydrosis due to WNK1 gene mutation.