medical case analysis of a 42 Year old woman with multiple health events since birth

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..
            Following is my analysis of this patient's problem:

patient is a known case of G6PD deficiency and AMPD1 deficiency

            current complaints of patient are:
  •   Migraine with aura
  •   Swelling over face and abdomen
  •   Difficulty in breathing[SOB]
  •   Fatigue   
  •   Poor stress response
  •   Anhydrosis/oliguria
  •   Sleeplessness[insomnia]
  •   Salt cravings
  •   Left jaw pain up into face      

migraine with aura

onset-2 years of age
duration-approximately 40 years
gradually progressive
worsened with menses and use of novaring for birth control
preceeded by severe mood disorder[irrational anxiety/ anger/ fear] and inflammation on scalp
aura discribed as - starts as a small Flicker in the upper left and then eventually becomes a crescent that covers the entire center of her vision.
associated with , preceeding spinning movements, stuttering, left side hemiparesis,memory loss[intermittent]
triggred with intense physical activity, skipping of meals, exposure to smoke, stress, reduced sleep.
relieved on: triptans
last episode- march 2020

above findings suggestive of hemiplegic migraine 
[sporadic? or familial?][reference: https://www.ncbi.nlm.nih.gov/books/NBK513302/ ]
 
investigations required: CT/MRI OF BRAIN,genetic testing for familial cause.
cause for CSF RHINORRHEA from left nostril?[unexplained]

swelling over face and abdomen:
present since birth,
intermittent, severly fluctuating.
mostly on the face and abdomen sometimes involves even gut, hands and feet,
aggravates on emotional stress, eating wrong foods[ carbs, fava beans], exercise, smoke.
associated with SOB and oliguria
relieved on rest, and fasting
used diuretics-aggraveted the symptom
cimetidine- found useful, reduced swelling
cause: might be due to progression of G6PD to hemolytic crisis, exessive salt intake, recurrent UTI'S, use of drugs like antimalarials, consuming fava beans, chronic anemia, hypothyroidism, hiatus hernia[ diagnosed with hiatus hernia].
no h/o of swelling on consuming apples some meat and herbs.
recommed: close monitoring of g6pd levels, avoid triggering drugs.

 Difficulty in breathing[SOB] and fatigue:

present since childhood,
diagnosed with asthma, inhalers were of no use.
this can be due to AMPD1deficiency and G6PD deficiency->right heart failure-> SOB.
 majority of patients with AMPD1deficieny suffer from post exercise symptoms like: rapid fatigue,cramps and myalgias. [reference: https://www.orpha.net/data/patho/GB/uk-AMPD.pdf ]
patients with G6PD deficiency-present with  fatigue, pale color, shortness of breath, rapid heartbeat, dark urine[due to hemolysis], a sudden rise in body temperature, lower back pain, and an enlarged spleen (splenomegaly). Yellowing of the eyes, mucous membranes and skin (jaundice) is common. Gastrointestinal symptoms such as diarrhea, nausea or abdominal discomfort or pain may also occur. [reference: https://rarediseases.org/rare-diseases/glucose-6-phosphate-dehydrogenase-deficiency/]
relieved with ribose. [gets easily absorbed in gut and rapidly cleared by metabolic pathway,it presumably serves as additional source of energy for muscle, effective as long as present in blood, had short half life, hence should be taken frequently.per hour 0.1 to 0.15mg/kg body weight has to be taken]reference: https://www.orpha.net/data/patho/GB/uk-AMPD.pdf

poor stress response:

poor stress response and increased pain tolerance present since childhood
associated with: h/o multiple falls and fracture of ankle
probable diagnosis could be osteoarthritis,CIPA (Congenital Intolerance to Pain With Anhydrosis)
increased tolerance to pain can be due to  variety of factors that alter pain threshold like emotional stress, ethnicity, and  chronic illness like fibromyalgia, as she has a family history of fibromyalgia there is a chance of corresponding gene involvement (alters the pain threshold ).
further investigations required to rule out fibromyalgia. 

anhydrosis/oliguria:

Severely reduced urination, thirst and sweating when swelled up and improved when her swelling subsided. 
Also she takes a lots of salt. 
Probable mechanism : 
 kidney needs lots of energy for ions active transport and hence water balance in body and her urge for salt as when she might be loosing them heavily, also a reason may be why she urinate less is because she loose lots of ions as not having enough nadph & atp for their absoption by active transport mechanism. 
Rx : L-Serine , cimetidine helped her

sleeplessness/ sleep distubances:

present since birth[ 2 to 4 hours sleep per day]
no rem
imoproved with L serine, and cemetidine
cause: mostly due to G6PD deficiency due to reduced NADPH and reduced glycine

salt cravings:

patient has history of taking only water and high salt broth at birth [would vomit anything aside]
suggestive of G6PD deficiency
other probable causes could be addisons disease, electrolyte imbalance, stress, lack of sleep,bartter syndrome ruled out as she doesnt need to urinate often.


left jaw pain up into left [unexplained]

other positive findings from history:
  • jaundice at birth with other anomalies
  • developmental delay
  • recurrent kidney infections and UTI's, pneumonia
  • cervical degeneration
  • scoliosis
  • PCOS- may be cause for dysmenorrhoea, excess unwanted hair growth and ectopic pregnancy.
  • diagnosed with type aB melanoma[sporadic? familial?]
  • failed LASIK, diagnosed with dyslexia [may be the reason for failure of LASIK]
  • diagnosed with ADHD/ Autism spectrum[unexplained].
  • family history: mother k/c/o fibromyalgia,father and grand father had a pace maker at 40's and history of early death. 
  • h/o rashes over face , probably due to reactivation of EBV or BEHCETS disease.
  • h/o mild thickening of distal small bowel,and pericolonic stranding
  • genetics: seatle type G6PD deficiency, AMPD1 deficiency[heterzygous], MTHFR[homozygous]-may be cause for B12 deficiency and folate deficiency and some neurological events, von willibrand's disease type 1, risk of developing autoimmune thyroid disease, osteoarthritis, glaucoma, alzeihmers, crohns disease, lung cancer..

    recently confirmed with behcets disease- treatment: lidocaince washes for oral ulcers and cognitive behavioral therapy.

     

    further investigations required are:

     complete blood picture
    MRI/CT brain
    RFT
    G6PD LEVELS regular monitoring
    B12 levels
    ANA test

    treatment:
    continue L serine 20gms,
    ribose 2gms
    cimetidine 400mg
    NAC 600mgs
    iron, folate supplements,
    vit B12 supplements
    avoid triggering agents.



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