General Medicine e-log book - 1

Case: 42-Year-old female with multiple health events since birth

    Presented by Shravani Reddy, Roll no. 15, 8th semester

    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.

You can find the original case 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 problem:

    The problems in order of priority I found are:

1. Swelling (mostly seen in face, abdomen, neck region)
2. Migraine with aura
3. Increased pain tolerance
4. Sleep disturbances
5. Exercise-induced fatigue

Reasons for the above problems:

1. Swelling:

    Aggravating factors  

• Emotional Stress
• Eating wrong food such as fava beans
• Exercise
• Smoking

    Relieving factors 

• Rest

    Associated factors 

• Shortness of breath
• Decreased urination (Increased on fasting)
• Dark-colored urine on exercise

    Differential diagnosis of swelling

• Angioedema
• Congenital heart disease
• Renal disease
• G6PD deficiency

2. Migraine with aura:

    Associated symptoms

• Numbness of left hand and left face felt like someone was pouring ice water over the cheek and also feeling of falling and spinning at night

    Probable diagnosis

• Seizures with postictal paralysis
• Hemiplegic migraine
• Brain tumors

3. Increased pain tolerance:

    Associated complaints

• History of multiple falls
• Fracture of ankle
• Never sweats

    Probable diagnosis

• Osteoarthritis (Could be responsible for multiple fractures)
• Congenital intolerance to pain with anhydrosis

4. Sleep disturbances:

    Possible causes

• G6PD deficiency (Glycine is an inhibitory neurotransmitter which is deficient)
• AMPD1 deficiency (Also known as Myoadenylate deaminase deficiency; Adenosine is an inhibitory neurotransmitter which is deficient)

5. Exercise-induced fatigue:

    Possible causes

• AMPD1 deficiency
• G6PD deficiency
• Oxidative stress (Past history shows parents to be chain-smokers which increases oxidative stress)

Other problems:

1. PCOS - Responsible for:

• Dysmenorrhoea
• Increased hair loss
• Ectopic pregnancy

2. Rashes on face

• May be due to SLE

3. ADHD

4. Anxiety, depression and other mood disorders

5. Other (Genetic)

        Increased risk for Alzheimer's disease, autoimmune thyroid, and autoimmune disorders, lung cancer, headache, obesity, diabetes, bipolar disorder.

Investigations:

1. Complete blood count

2. G6PD enzyme levels

3. Lactate dehydrogenase levels

4. Indirect and direct bilirubin

5. Urine analysis for hematuria

6. Peripheral blood smear

7. EEG and sleep study

8. Complete nervous system examination

9. CT scan of the head

10.Aerobic exercise testing and muscle histochemistry 

Recent updates in the case:

 Updated on May 2020

Patients presented with the complaints:

• Oral ulcers
• Vaginal ulcers
• She got diagnosed with Behcet's disease

Treatment:

1. Symptomatic treatment is given
2. Vitamin B-complex
3. Ribose diet
4. L-Serine
5. Keto diet
6. Anti-oxidants
7. Obviate oxidative stress
8. Cimetidine
9. (Fructose) + (Anti-oxidants)

Advice:

    Advanced, diagnosed modality like whole-genome sequencing must be done.

References:

1. https://www.egl-eurofins.com/tests/?testid=SAMPD
2. https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1
3. https://pubmed.ncbi.nlm.nih.gov/11146567/
4. https://en.wikipedia.org/wiki/Glucose-6-phosphate_dehydrogenase_deficiency
5. https://en.wikipedia.org/wiki/Adenosine_monophosphate_deaminase_deficiency_type_1

Thanks and regards,

Shravani Reddy.