GENERAL MEDICINE E LOG BOOK

A 42 YEAR OLD FEMALE WITH MULTIPLE HEALTH ISSUES 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 cilinical data.

You can find the entire  patient's clinical problem in the link below:

https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1

Following is my analysis of this patient's problem.

MAIN COMPLAINTS

1.Swelling over abdomen and face

2.Sleep deprivation.

3.Severe headaches and Migraine with aura.

4.Left sided weakness.

5.Extreme fatigue.

6.Shortness of breath

Reasons for the above compliants could be:

1. SWELLING OVER FACE AND ABDOMEN

    Onset : since birth 

    Duration : till date.

    Aggravating factors: -emotional stress,

                                           - exercise,

                                           - eating wrong food ,

                                           - smoke. 

Relieving factors: rest

Associated with shortness of breath ,dark coloured urine .

Possible causes:-

•It might be due to G6PD deficiency( Seattle type) leading to oxidative stress and hemolysis,causing pulmonary hypertension and right heart failure which leads to ascitis and edema.

(Severe jaundice by birth,dark tea coloured urine,large upper body, ,reaction to fava beans, antimalarial and sulfa drugs suggests G6PD deficiency.)

•Anything  causing oxidative stress like exercise,smoke eating wrong things,emotional stress,sleep deprivation can cause hemolytic crisis and subsequently edema.

•Also G6PD deficiency is responsible for her kidney infections(lack of NADPH and increase urobilin due to hemolysis) and muscle pain.

Investigations :

•complete blood picture

•peripheral blood smear:bite cells,Heinz bodies

•raised LDH

•Specific test :Beutler fluorescent spot test.

•direct coombs test: negative 

Treatment:

• non pharmacological:avoid oxidative stress,proper treatment of infections,avoid fava beans ,

• pharmacological:oxygen therapy,N acetly cysteine,cimetidine,blood transfusion.

2. SLEEP DEPRIVATION

    Onset:since birth.

    Daily 2 to 4 hours of sleep and no REM sleep.

Possible causes:

•G6PD deficiency leading to impaired glycolysis and decreased levels of glycine (inhibitory neurotransmitter)

•Lack of sleep is responsible for mood didturbances,memory loss,decreased immunity,poor balance and coordination ,trouble thinking and concentration and oxidative stress.

Treatment: L -serine.

3.SEVERE HEADACHES AND MIGRAINE WITH AURA.

•Onset: since 2 years of age and aggravated during menses.

•Gradually progressive

•Repeated attacks of migraine with aura more on left side.

•Associated symptoms:

  ✓left hand numb and left face felt like someone pouring ice water over cheek

  ✓transient loss of vision 

  ✓aura started as small flicker in upper left and covers entire centre of vision

  ✓stuttering and memory loss

  ✓left side weakness

  ✓ spinning while turning left.

  ✓severe exploding headache.

  ✓ heard a loud pop in the head .

  ✓csf rhinorrhea

Possible causes :

• Hemiplegic migraine:mimics stroke and causes extreme muscle weakness and can cause paralysis and numbness on one side of the body,loss of balance and coordination,dizziness ,vertigo,photophobia,slurred speech,confusion.

•Hemorrhagic stroke.

Investigations:

•CT and MRI scan of brain for signs of stroke

Treatment:

•triptans.

5.EXTREME FATIGUE

 Following exercise and heavy activity.

Possible cause:

•AMPD 1 DEFICIENCY.

 It is associated with exercise intolerance and muscle pain and cramps due to lack of ATP and ribose required for muscle activity 

•G6PD deficiency (Seattle type)

Oxidative stress leading to muscle pain.

Treatment: ribose

6.BREATHING DIFFICULTY

    It could be possibly due to increased oxidative stress releasing reactive oxygen species and decreased antioxidants causing inflammation making the lungs susceptible to frequent infections and COPD.

•Hiatus hernia

•Pulmonary hypertension

OTHER PROBLEMS:

1.Decreased urination 

   It might be due to WNK 1 mutation.

    This mutation is associated with "congenital sensory neuropathy" with symptoms of loss of sensation to pain heat and touch.

2.Polycystic ovarian disease 

   It is associated with 

✓unwanted facial growth 

✓irregular /heavy menstrual periods

✓ectopic pregnancy

✓obesity and weight problems

✓metabolic disorders (increased homocysteine levels)

✓diabetes

✓increased DHEAS levels(fertility problems and alopecia)

3.MTHFR mutation.

 Associated with increased homocysteine levels leading to development of :

•neurological cardiovascular problems.

•pregnacy complications.

•autism,dementia, depression,migraine,cognitive impairment,movement disorders

Treatment:B12 ,B6 and folic acid supplement

4.Salt cravings: could be due to congenital adrenal hyperplasia .

5.Anhydrosis

6.multiple sprains in ankles and knee,cerviacal degeneration and scoliosis,leg fractures could be due to osteoarthritis 

7.Mood disorder ,sensory disorder, attempted suicide,irrational anxiety,anger ,fear,Autism,Adhd

8.Skin rashes due to bechets disease

Recent update:

Diagnosed with  Bechet's disease

 It is a autoimmune disorder affecting blood vessels all over the body.

Symptoms include:

✓oral ulcers 

✓genital ulcers

✓eye inflammation:uveitis and optic nerve damage leading to vision loss

✓skin problems:erythema nodosum and folliculitis.

✓joint problems

✓kidney problems

✓menigitis.

Diagnosis:pathergy test

Treatment:steroids.

References:

Wikipedia 

https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1

https://ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency#diagnosis

https://www.webmd.com/migraines-headaches/hemiplegic-migraine-headaches-symptoms-causes-treatments 

https://emedicine.medscape.com/article/329099-overview#a1

https://ghr.nlm.nih.gov/condition/adenosine-monophosphate-deaminase-deficiency

https://www.medicalnewstoday.com/articles/307334