General medicine case discussion

158 Suprajaa Pulluru 

I've 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 entire real patient clinical problem in this link here..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:

The problems in order of priority I found are 

1) Migraine and aura 

2) Swelling

3) Sleep disturbances

4) Mood disorders

1. Migraine and aura 

-present since age 2 years

-became worse with menarche and with the usage of nuvaring

-associated with visual aura before the attack(scotomas, flashes of light,seeing rainbow colors)

-associated with giddiness, weakness/numbness of left half of the body

So,the cause for headche could be HEMIPLEGIC MIGRAINE.

PATHOPHYSIOLOGY of migraine 

  

Investigations:

  CT,MRI- to rule out stroke, brain tumors

  

Treatment:

  -She is taking triptamines in the form of     microdosing magic mushrooms

  -avoid triggering factors like caffeine, physical activity, strong odors etc

MIGRAINE:

 Reason for it's aggaravation during menstruation:

   -withdrawal of oestrogen as a part of the normal menstrual cycle

   -normal release of prostaglandins during first 48hrs of menstruation

2.SWELLING:

  - mostly confined to face and abdomen

 - present since 1 year age

 - aggravated with smoking, exercise,fava beans, after taking sulfa drugs, antimalarial drugs

 - relieved by cimetidine(400 mg)

 - reduced after urinating (with L Serine)

 - h/o dark or yellow colored urine after exercise or extreme stress

 

Differential diagnosis of swelling:

 - Angioedema

 - conenital heart disease

 - renal disease

 - G6PD deficiency

H/o dark urine(hemolysis),features such as aggravation of swelling with favabeans,sulfa drugs, antimalarials and h/o  severe jaundice at birth are more suggestive of G6PD deficiency.

So, the cause for swelling could be G6PD deficiency.

Further history and investigations:

 - there is no history of allergies, so angioedema can be ruled out

 - ECG,Chest X-ray: to rule out congenital heart disease

Treatment:

- she is taking Cimetidine -400mg

- blood transfusions may be required in severe cases

- hemolytic episodes and anemia can be prevented by avoiding certain triggers

     - fava beans

     - sulfa drugs

     - extreme stress or exercise

     - antimalarial drugs like primaquine.

 

   The reason for swelling in G6PD deficiency:

- In G6PD deficiency, massive intravascular hemolysis can cause renal failure, results in retention of fluid leads to facial puffiness and tissue edema.

3.SLEEP DISTURBANCES:

   -Present since birth

   -Sleep was never more than 2-4hrs at a (no REM sleep)

   1.The reason for sleep disturbances could be G6PD deficiency: G6PD deficiency results in impaired glycolysis. As a result Glycine (inhibitory neurotransmitter) is not produced.

   2. As she was diagnosed with ADHD(Attention Deficit Hyperkinetic Disorder), it could also be a reason for sleep disturbances.

 Treatment:

   - she is taking L Serine(orally)

    L Serine converts to Glycine invivo, which is an inhibitory neurotransmitter.

4.MOOD DISORDERS:

  -present since childhood 

  -aggravated over time

  -extremely angry and fighting if anyone tried to force feed.

  -temper tantrums for no reason

  There is a possible association of G6PD deficiency with acute psychosis, catatonic schizophrenia, and bipolar disorders.

https://www.google.com/url?sa=t&source=web&rct=j&url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573579/&ved=2ahUKEwj167PppLjpAhU3zTgGHVl3CucQFjADegQIARAB&usg=AOvVaw3Fz4uikJNNfLLscFQo7jvd&cshid=1589629098741

Other features:

-Craving for salt:

kidney requires ATP for absorption of ions. In G6PD deficiency,there is decreased production of NADPH and ATPs. As there is no energy, it results in loosing lots of ions. That's why she consume extra salt to maintain water and electrolyte balance.

-Rashes on face:

 usually 2-4 times a year

 comes at the time her warts and EBV reactivate

 worsened after taking Cimetidine

 but, there were no rashes in past 6 months

* G6PD DEFICIECY 

Rx : 

Avoid triggering factors (drugs, foods,...) 

Supportive treatment

Vit B12 and Folic acid supplements

NAC (helps in building antioxidants)

* AMPD1 DEFICIECY 

Rx : 

      continue with D-Ribose(0.1-0.15 mg/kg/hr)

**She should even be treated for hyper homocystine levels with low homocystine diet & with vitamin B12, B6, Felicia acid supplements 

**As she was also diagnosed with bechets disease she should prefer using cytotoxic drug from colchicine as this drug would act as risk of hemolysis in G6PD deficiency 

 

REFERENCES:

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

https://images.app.goo.gl/1fMqp7GzZEJNVmwi7\

https://images.app.goo.gl/upWUyHQjhaiRACYJ6

ANOTHER POST :

https://www.blogger.com/blog/post/edit/4650452840204527742/5850404328344110898