A 42 YEAR OLD LADY WITH MULTIPLE EVENTS SINCE BIRTH

  

Let me Introduce myself , I AM G.ACHAL RAM , Currently in fourth year pursuing MBBS in Kamineni Institute of medical Sciences.

The objective of My Discussion is to Improve Comprehensive Assessment regarding Patient's clinical data ( History and Clinical Findings ) and Culminating with a proper Management.

After reviewing the whole data about the case, provided in the below (https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1)  

The SUBJECTIVE complaints in the patient are as follows :

 

 1. Frequent fall to the left side with weakness in left hand and leg.

 2. Cravings for salt and fat.

 3. Hair loss.

 4. Decreased response to stress and fatigue.

 5. She had generalized swelling due to emotional stress, exercise, smoking, eating and mostly confined to face and abdomen.

 6. she had decreased sleep .

 7. she complaints of decreased urine output.

As she came to the hospital with multiple various events at different times of her lifespan , It is better to go with focused assessment to come up with a possible near diagnosis.

On Exploration of the Patient's Problem , I came up to prioritize her medical conditions which require immediate medical treatment.

• SWELLING.
• HEADACHES.
• LEFT-SIDED WEAKNESS.
• SLEEP DEPRIVATION.
• EXERCISE INDUCED FATIGUE.

LOOKING INTO ROOT CAUSE FOR THE ABOVE PROBLEMS....( WHY??)

SWELLING

• Onset: since 1 year of age
• Duration : since 1 year of age
• location : face, abdomen.
• Aggravated by stress, eating fava beans, exercise, smoke.

Investigations:

• CUE to detect any abnormal urine analysis reflecting function of kidney.

   ETIOLOGY : 

• as G6PD is responsible for the production of NADPH, she has its deficiency hence absence of it results in the loss of ions leading to the edema
• Consumption of fava beans as she has G6PD deficiency.
• any underlying pathology in the kidney may also result in edema.

Treatment:

• Avoid triggering factors of G6PD
• stop consumption of fava bean

HEADACHE

 

• Sudden onset , aggrevated on Infections like meningitis, encephalitis , gradually progressive since 40 years on left side.
• Associated with aura - it starts as a small flicker in the upper left and then becomes crescent and then covers the entire vision
• Relieved on medication
 The probable diagnosis could be-
• HEMIPLEGIA MIGRAINE / BRAIN TUMORS

Investigations:

• CT and MRI of the brain to detect the tumors , stroke
• CSF analysis to detect the infections
• EEG to detect seizures
• Detect the intracranial pressure

Treatment

• Triptans (she was diagnosed for the migraine at 15 years of age )
• surgery for the TIA       
• Antiepileptics for seizures.

      EXERCISE INDUCED FATIGUE

• 
  

• G6PD deficiency leads to the oxidative stress which may induce fatiguE.
• She was diagnosed with jaundice at the age of one, now we are suspecting her to have g6pd deficiency, because of this the reduced glutathione which is responsible for the integrity of the RBC membrane and also to keep the HB in the ferrous state is deficient, which results in the haemolysis and probably the dark colour of the urine is because of this and even the fatigue

           INVESTIGATIONS

• hemogram -which may show anaemia
• SGPT, SGOT -elevated because of the haemolysis 
• LDH for haemolysis
• HEINZ BODIES  characteristic of this deficiency are observed 

          TREATMENT

• Ribose 2 gm every hour in water helped her to produce ATP
• Iron folate tablets 

DECREASED URINE OUTPUT

the patient has given the h/o oliguria which might be due to the oxidative stress in the kidney due to the deficiency of the enzyme causing ion imbalance 

the dark colour of the urine might be due to the haemolysis which may cause an increase in the levels of the urobilinogen

Investigations:

• Renal USG 
• CUE

Treatment:

• Antimicrobials.
• oral fluid therapy
• corticosteroid

OTHER PROBLEMS

 

Polycystic ovarian disease -

• dysmenorrhea
• Ectopic pregnancy

Bipolar disorders, anxiety, depression.

Genetics
Seattle type G6PD deficiency.

AMPD1 - AMPD1 deficiency heterozygous

MTHFR - homozygous for C677T of MTHFR = 10-20% efficiency in processing folic acid = high homocysteine, low B12 and folate levels

WNK1 mutation

HLA-DRA - 3x higher risk for developing a peanut allergy In populations of European ancestry

VWF - association with Von Willebrand disease type 1

DIO2 - the 1.3-1.79x risk of osteoarthritis, 3.75x bipolar, etc.

ANKK1 - Tardive Dyskinesia risk, higher ADHD risk. More Alcohol Dependence. Lower risk of Postoperative Nausea. Increased obesity.

 TREATMENT 

 1- Ribose diet
 2- L serine for sleep
 3- cutting oxidative stress
 4.vitamin B complex
 5.antioxidant vitamins
 6.fructose+antioxdants
 7 salt + butter
 8 .keto diet.
 9. iron folate supplemets.
10. antioxidant supplement pycnogenol
11.cimetidine for swelling - tried and helped
12. NAC

THANKYOU.

THANKYOU