Case of 42yr old female with multiple health events since birth

Case of 42yr old female with multiple health events since birth 

I am poreddy Jahnavi , Roll.no.128, studying MBBS final year.

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:

*Swelling of abdomen, face/neck
*Migrane with aura
*Sleep disturbance
*Fatigue
*Weakness on left side
*Less urination and sweating

*Swelling of abdomen and 

patient has history of frequent  swelling since birth till date
possible diagnosis:G6PD Deficiency
symptoms suggestive of diagnosis:
•aggrevating on eating fava beans,antimalarials, sulfonamides
•neonatal jaundice
•dark coloured urine
•shortness of breath
•recurrent infections
possible mechanism:In G6PD Deficiency reduced NADPH levels leads to incread free radical damage to kidney and excessive ion loss and distured water balance leading to oedema.
Investigations:
•G6PD Levels
•bilirubin level
•CBP
•Heamoglobin in urine
•hatoglobin level
•LDH Test
Treatmemt:
•avoiding trigger factors
•cimetidine(patient is already taking 400mg and has good prognosis)
•Transfusion in severe cases

refence:

https://www.healthline.com/health/glucose-6-phosphate-dehydrogenase-deficiency

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

*Migraine with aura

patient has headache since the age of 2 years which aggrevated with menses. At the age of 34 migraine with aura increased severely and completely loss vision.

Aura started as a small flicker in upper left and then eventually became a cresent that covers the entire centre of vision
Investigation:
•CT Brain8
•MRI Brain
•Carotid doppler studies
Treatment:
•Triptans
•antinausea medication
•trying cold compress or pressure on the painful area

refence:

https://www.mayoclinic.org/diseases-conditions/migraine-with-aura/symptoms-causes/syc-20352072

https://www.webmd.com/migraines-headaches/what-is-a-migraine-with-aura

*Sleep disturbance:

patient never sleeps for more than 2-3hrs a day with nearly no REM sleep

possible mechanism:In G6PD deficiency there is impaired production of glycine.
Investigations:
•G6PD Levels 
•EEG
Treatment:
•Avoiding stress
•L-Serine(inhibitory neurotransmitter)-which patient ia already taking and improved her sleep to 6-7hrs with REM sleep of 3hrs per day

reference:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4155056/

*Fatigue:

patient feels fatigue normally which aggrevates with exercise

Possible mechanism:
•mutation in AMPDI gene often results in AMP deaminase enzyme that cannot function and as a result energy production in skeletal muscle cells is decreased.
Skeletal muscles are particularly sensitive to decrease in energy driving period of exercise or increased activity when energy demand increases.
•decrese in NADPH in G6PD deficiency leads to oxidative stress which leads to muscle disruption.
Treatment:
•D-Ribose (patient is already taking and has good prognosis)

reference:

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

*Weakness on left side:

patient has frequent falls to left,numbness of left hand and sensation of water pouring on left side of face

possible mechanism:
•hemiplegic migraine
•AMPDI Deficiency
Investigations:
neurological studies

*Less urination and sweating:

patient has less urination while fasting and does'nt sweat even in humidity.

possible mechanism:deficiency of NADPH and ATP leads to loss of more ions so there is urge for salt intake
treatment:
cimetidine(patient is already using and has good prognosis)

*Other problems:

•Excessive hair loss, ectopic pregnancy may be due to PCOS.

•Increased tolerance to pain due to WNK 1 mutation

•cervical degeneration, multiple fractures may be due to osteoarthritis because of DIO2 Mutation.

•frequent rashes on the face may be due to BEHCETS disease which she was diagnosed recently.