A Case of a 42 yr old female with multiple health events-

A Case of a 42 yr old female with multiple health events-

Presented by- Sai deepika. K( Roll no-85)

Case of a 42 year old female with multiple health issues.

Present complaints:

    *Migraine
    *Swelling mostly face and abdomen
    *Sleep disturbances
    *fatigue

     *oliguria

History:

1. MIGRAINE:
 Sudden, gradually progressive more on left side head ache started at 2 years of age
* Associated with:
Aura
numbness of left hand and left side of the face
feeling of rotation and spinning while sleeping on left side.  

INVESTIGATIONS:

* CT and MRI of brain: brain tumours, stroke, TIA
* CSF analysis: infections
* EEG :seizures
* Magnetic Resonance Angiography:TIA
* Intracranial pressure

TREATMENT:
triptans like sumatriptan
dihydroergotamines
anti nausea medications

2.SWELLING-

Patient gave history of swelling since one year of age,localized to face and abdomen, which was aggravated by physical exertion(exercise) , smoking , emotional stress. and relieved on rest.

associated with shortness of breath. possible causes for swelling could be hemolytic anemia, oxidative stress.

G6PD, which is the first and major step in the production of NADPH which is required for scavenging free radicals to prevent oxidative stress, is deficient in this patient and hemolysis might be responsible for congestive heart failure, oxidative stress in the kidney might also lead to ion imbalance leading to swelling in the patient which can be underlying pathological reasons. acute episodes of hemolytic crisis can be attributed to G6PD deficiencing like severe reactions to sulpha drugs and antimalarials,favism.

Investigations done in this patient:

• Hemogram - depicts anemia
• CXR - Left atrial enlargement
• ECG - signs of Right Heart Failure
• SGPT, SGOT - elevated in this case suggestive of hemolysis
• COMPLETE URINE EXAMINATION to check for any infection
• Total BIlirubin - should be elevated 

treatment suggested

• Avoiding stress
• Do not consume fava beans, sulpha drugs, antimalarials
• Excess salt consumption 

3.SLEEP DISTURBANCES- Since the patient was an year old, sleep was always a problem. It is never more than 2-3 hours a day with nearly no REM sleep at all.

This might be due to G6PD deficiency or AMPD1 deficiency 

• IN G6PD deficiency, there is impaired production of glycine (inhibitory neurotransmitter )
•  adenosine can cross the blood–brain barrier and possibly affect cholinergic neurotransmission, resulting in the inhibition of cholinergic neurotransmission in the basal forebrain, inducing sleep and enhancing acetylcholine release in the pons, inducing REM sleep.

INVESTIGATIONS:

physical exam

sleep habits

sleep study

EEG

TREATMENT:

L-serine - it reversibly converts to glycine which is an inhibitory neurotransmitter and hence helps to induce sleep.

4.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. 

(Since heart and skeletal muscle have low levels of catalase and superoxide desmutase, they rely mainly on GSH for detoxification of free radicals)

•  Hence oxidative stress causes myofiber disruption and loss of intracellular proteins, leading to post workout sourness.

• Anemia is also a cause of fatigue.

•  AMPD1 Deficiency also causes decreased ATP and muscle weakness

5.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 ISSUES:
* She had excessive body hair at 3 years which might be because of PCOS. Further she complained of dysmenorrhea, Ectopic pregnancy and Ovarian cysts.
* Increased pain tolerance - WNK1 Hereditary Sensory Neuropathy.
* MTHFR gene - Hyperhomocystinemia
* VWF mutation - bleeding disorders, Menstrual bleeding.
* ANKK1 - ADHD
* Increased risk of infections