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.




Comments

Post a Comment

Popular posts from this blog

72 yr old female with fever, vomitings and loose stools.

Image
This is Online E log book to discuss our patient’s de-identified health data shared after taking his/her/guardian’s signed informed consent .Here we discuss our individual patient’s problems through series of inputs from available global online community of experts with an aim to solve those patients clinical problems with collective current best evidence based inputs.  Case:- 72yr old female  came to the casualty with c/o vomitings since 3 days, fever since 3 days loose stools since 1 day . Fever :  Low grade, intermittent, not associated with chills and rigors , associated with decreased Appetite, loose stools and vomiting. Vomitings:-  3-4 episodes per day, non - bilious , non - projectile, food/ water as content. Stools:-  10-12 episodes/day, green in colour associated with lower abdominal pain- diffuse, squeezing type, no aggrevating and relieving factors. Patient was apparently asymptomatic 6 months back, from then she decreased using her left lower limb , walking with support (
Read more

A 49 yr old female with generalized weakness and vomitings

Image
This is an online e-log platform to discuss case scenarios of a patient with their guardian\"s permission. 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, investigations, and come up with a diagnosis and treatment plan. ★ CASE SCENARIO : *A 49 yr old female , mother of 2 children, who is a  house wife,   apparently asymptomatic 13 yrs ago and then she noticed mass per anum with bleeding , went to hospital and diagnosed as haemorrhoids and got operated. - Since 3 yrs she has history of muscle aches, for which she is using NSAIDs. - She has h/o fever 20 days back, got treated in the local hospital, and  - Since 20 days she has generalized weakness. - She also has h/o vomitings since 3 days, with food as content, non - projectile , non bilious. - Urine output - Normal  - No fatigability , pedal oedema ,  -  No SOB , fa
Read more

A 50 yr old patient with giddiness, and dry cough.

Image
This is an online E log book to discuss our patient\"s de -identified health data shared after taking his/her/guardian\"s signed informed consent. Here we discuss our individual patient\"s problems through series of inputs from available global online community of experts with an aim to solve those patient\"s clinical problems with collective current best evidence based inputs. This E log book also reflects my patient-centered online learning portfolio and your valuable inputs in the log.  Chief complaints;- A 50 yr old female came to the OPD with the chief complaints of.. Giddiness since 1 week ..     associated with blurring of vision( intermittent). Dry cough since 2 days Fever with chills since 1 day... History of present illness:- Patient was apparently asymptomatic 2 yrs ago, then she had high grade fever, associated with chills, red coloured urine, burning micturition,which was diagnosed as emphysematous pyelonephritis. Stenting was done and removed 2 yrs ago
Read more