Manishgoud103

A 42 yr old female case with multiple health issues since birth 

Presented by - Manish nemuri 

Roll no - 103(8th sem)

You can find the patient's clinical problems here:

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

With the history of the patient and her chief complaints the major signs indicated in her are 

Frequent edema.

headaches

Oliguria

Insomnia.

Fatigue

Weakness on the left side 

Swelling of face and Abdomen - 

Triggers factors for edema include emotional stress, exercise, smoke, eating the wrong thing.

The patient also gave a history of neonatal jaundice , SOB, dark coloured urine which suggest a possible hemolytic disorder. 

Possibility might be -

G6PD deficiency is a genetic abnormality that results in an inadequate amount of glucose-6-phosphate dehydrogenase (G6PD) in the blood. This is a very important enzyme (or protein) that regulates various biochemical reactions in the body.G6PD is also responsible for keeping red blood cells healthy so they can function properly and live a normal life span. Without enough of it, red blood cells break down prematurely. This early destruction of red blood cells is known as hemolysis, and it can eventually lead to HEMOLYTIC ANEMIA. Hemolytic anemia develops when red blood cells are destroyed faster than the body can replace them, resulting in reduced oxygen flow to the organs and tissues. This can cause fatigue, yellowing of the skin and eyes, and shortness of breath. 

INVESTIGATIONS:

Complete blood count and reticulocyte count

G6PD enzyme levels

Lactate dehydrogenase levels

Indirect and Direct Bilirubin 

Serum Haptoglobulin

Urinalysis for hematuria

Urinary Hemosiderin

Peripheral Blood smear

TREATMENT:

avoid trigger factors

cimetidine (the pt is using 400mg and it has decreased the frequency and severity of episodes )

include sources of antioxidants diet

oxygen therapy and

blood transfusion in extreme cases.

2.HEADACHES

Severe headaches started at the age of 2 and became worse with menses at age 14.

Attacks increased in severity over time.

They are preceded by aura mainly visual.

MIGRAINE 

Migraine headache is episodic and 20% are classical (associated with aura).

DIAGNOSTIC CRITERIA FOR MIGRAINE:

Repeated attacks of headache lasting for 4-72 hours in patients with normal physical examination and no other reasonable cause for headache and atleast 2 of the following:

• Unilateral headcahe.
• Throbbing pain.
• Aggravated by movement.
• Moderate to severe intensity.

plus atleast 1 of the following:

• Associated nausea and vomiting.
• Photophobia and phonophobia.

CHARACTERISTICS OF AURA:atleast 3 of the following:

• Gradual onset.
• Lasting <60 minutes.
• Fully reversible.
• Followed by headache within 60 miuntes or headache simultaneously with aura.
• Not attributable to other disease.

FURTHER INVESTIGATIONS

• Fundus examination: look for papilloedema: sign of raised ICT and helps in ruling out Dangerous type of headache.
• CT and MRI
• XRAY paranasal sinuses

SUGGESTED TREATMENT

ACUTE MODERATE TO SEVERE ATTACK;

Triptans (5HT 1B/1D agonists) are used.

Newer modality of treatment:ERENUMAB:monoclonal antibody against CGRP(calcitonin gene regulated peptide).

3) WEAKNESS ON LEFT SIDE:

The patient currently complains of frequent falls to the left. Left foot and left hand started giving out.

Unbearable feeling of spinning when turned to left. 

Severe cramping of left arm

Sometimes complete loss of function on the left side. 

Numbness of left hand and feeling of someone pouring ice Water over left face during migraine attacks.

• This might be due to muscle weakness caused my AMPD1 deficiency 
• Hemiplegic migraine is another probable diagnosis

4)  Sleep disturbances:

• Onset - since birth
• Duration of sleep - 2-4 hours and no REM sleep

Possible causes :

• AMPD1 Deficiency can cause sleep disturbances because Adenosine is an inhibitory neurotransmitter so it should help in sleep.
• G6PD Deficiency impaired the glycolysis so glycine is not formed well . Glycine is also an inhibitory neurotransmitter.

Treatment taken by her :

• L serine : works like glycine in brain so helps in better sleep
• Cimetidine

5) FATIGUE

The patient complains of excessive fatigue more severely most exercise.

• This is due to - in G6PD deficiency, decreased levels of NADPH leads to increased intracellular GSH which inturn increase the cell vulnerability to oxidative stress. 

Treatment taken by her : 

Ribose- helps to recover ATP levels and has improved the functional ability of the patient.

6) OLIGURIA

The patient complains of decreased urination which increases during fasting.

This might possibly be due to her G6PD deficiency- due to deficiency of NADPH and ATP there is increased loss of ions

 ( as both are needed for active absorption of ions )

And hence there is decreased urine output and an increased urge to take in salts due their continuous loss.

OTHER  PROBLEMS :

1. CERVICAL DEGENERATION AND SCOLIOSIS SEEN ON X-RAY 

2.ECTOPIC PREGNANCY AT AGE 21

3.MULTIPLE OVARIAN CYSTS. DIAGNOSED WITH PCOS AT AGE 22  

4.INCREASED TOLERANCE TO PAIN- WNK 1 MUTATION

5. FAILED LASIK SURGERY

6.RECURRECT INFECTIONS

7. EXCESSIVE HAIR LOSS

8. MFTR MUTATION- increased homocysteine and decreased folate and b12 levels