CASE DISCUSSION 1 : Case of a 42 year old woman with multiple health events since birth

86 roll no: mounika kethavath.

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

Following is my analysis of this patients problem

* The problems in priority are :-

1. SWELLING(edema):- of face,abdomen

    Possible causes are :-

    a) G6PD deficiency - which leads to lower NADPH levels ---> decrease in intracellular GSH ---> incresases the cell vulnerability to reactive oxygen compounds&free radicals(oxidative stress) --> hemolysis -->pulmonary HTN -->right heart failure -->ascitis --> swelling

       Symptoms aggravation in pt on taking fava beans ,antimalarial therapy

     b) Renal infections --  post streptococcal infection(throat)

INVESTIGATIONS:-

-- CBP revealed anemia

-- LFT showed increase in ALT,ALP levels

-- ECG - right heart enlargement

-- Echocardiogram

RECOMMENDED investigations:-

-- LDH,peripheral smear(heinz bodies characteristic of G6pd deficiency),serum haptaglobulin levels,RFTs should be done

TREATMENT-- cimetidine,ribose

                       Hemolysis- blood transfusion

                       Dyspnoea- oxygen therapy

2. SLEEP DISTURBANCES

    Causes:- 

  a) AMP1 deficiency(adenosine is a inhibitory neurotransmitter aka cns depressant i.e in normal conditions it promotes sleep & suppresses arousal)

  b) G6PD deficiency(deficiency of glycine,altered serotonin levlels)

  c) mood disorders

  d) cardiac problems

  e) menstrual abnormalities

  f) mood disorders

INVESTIGATIONS

-- EEG

-- ECG

-- Enzyme analysis

TREATMENT- Lserine,cimetidine,Antipsychotics,

3.HIRSUTISM

   Possible causes:-

  a) PCOD's

  b) Adrenal hyperplasia

  c) cushings disease

        In all the above cases there is increase in androgen levels that leads to excessive hair growth on face,body & neck

INVESTIGATIONS

-- USG

-- salivary cotisol & DHEA levels

TREATMENT - Antiandrogens,OCPs,spironolactone

4.OLIGURIA - due to G6pd deficiency there is oxidative stress causing kidney damage.

  Possible causes:-

a) WNK 1 gene mutations -which may lead to excesssive ion absorption & anhydrosis causing oliguria

b) kidney infection like glomerulonephritis

c) UTI

INVESTIGATIONS

-- complete blood picture

-- Complete urine examination

-- Ultrasonography

-- CT abdomen

-- Cystoscopy

TREATMENT - Diuretics,i.v fluids,underlying UTI infection must be treated with specific antibiotics

5.MIGRANE - associated with aura,leftsided numbness,loss of vision,leftsided swinging movement

  Possible causes:-

a) meningitis

b) brain tumors

c) hemiplegic migrane

d) cerebellar or vestibular disorders

e) lactic acidosis & stroke

INVESTIGATIONS

-- EEG

-- MRI

-- CSF analysis

TREATMENT - Triptans,acetamenophenon,ergot alkaloids,triggering factors like sunlight & stress should be avoided

CURRENT ISSUE:- left side falls 

 Possible causes:-

a) cerebellar or

b) vestibular disturbances

INVESTIGATIONS

-- neuroimaging -MRI

-- Auditory brainstem response

-- VEMP,electrocochleography should be done

          

            Other conditions like muscle cramps,pains which may be due to elevated lactate levels,hair loss,palpitations,fatigue,rash,underlying conditions should be elicited and managed accordingly.