A 42 year old female with multiple health events since birth

Hello all, I am a final MBBS part II student, and this is a log of learning points from case in the link below. This is to complete my log book as a part of under graduate course.




Presenting problems 

  1. Frequent falls on left side, weakness on left hand
  2. Generalised swelling of body(associated with increasing weight) 
    • emotional stress, eating the carbohydrate rich food, exercise, smoke aggravate swelling.
    • Cimetidine relieves swelling
    • Fluctuates over days
    • On the day of reduction of swelling there is increased urination
  3. Salt cravings 
  4. Hair loss 
  5. Intolerance to foods
  6. Sleeplessness, improved sleep when l-serine taken.
  7. Severe head ache mostly on left with aura
    • It always starts as a small Flicker in the upper left and then eventually becomes a crescent that covers the entire center of my vision. Lots of rainbow colors and movement. In the last year had some instances where it was from the led tand a line or circle that was solid and black.
  8. Fatigue severe sometimes impaired activities of daily living
  9. Dark yellow urine after extreme stress or exercise
  10. Rashes on face
    • 2- 4 times a year associated with what is in Epstein-Barr virus reactivation 
    • cimetidine increases rash
  11. Inability to feel pain patient presents with multiple bruises and cuts

Past history 

  • At 1 year
    • Severe jaundice
    • Tongue tie 
    • Upper palatine tori
    • Vomiting almost all foods except high salt content broth
  • At 3 years
    • Excess hair growth (hircutism)
  • At 4 years
    • Unary tract infections, pneumonia, streptococcus pharyngitis, pyelonephritis
    • Adverse drug reaction to sulphur drugs
    • Severe head ache associated with prior aura
    • Aggressive mood disorder prior to an event of severe head ache
  • At 15 years
    • Attempted suicide
    • Anorexia, treated and gained 25lbs in 2 weeks
  • At 21 years
    • Ectopic pregnancy
    • Waking up from anaesthesia 
  • At age 23
    • Pyelonephritis 
    • Melanoma and 4 other precancerous lesions removed
  • At 31 years
    • Fracture leg while dancing
  • At 32 years
    • Drug reaction to anti malarials
  • At 34 years 
    • Had worst headache ever
    • Vertigo event when turned left
    • Numbness of left face
    • Flow of fluid through nostril for 10 minutes after a loud POP in head.
    • Severe headache reduced with tryptans(magic mushrooms)
  • At 35 years
    • LASIK surgery (no improvement in vision post surgery)

Known case of

  • Migraine at age 14
  • Polycystic ovarian syndrome diagnosed at age 22
  • G6PD deficiency (Seattle type) and AMPD1 deficiency diagnosed at age 35
  • Autism spectrum/ADHD diagnosed at age 35
  • Postural orthostatic tachycardia syndrome
  • Bahçet’s syndrome

Not a known case of

  • SLE

Diet history 

  • an apple once a day since many years.
  • Now days 5% carbohydrates in diet, 95% other.
  • carbs, (cake, ice cream) associated with swelling
  • Had been sick when followed dietician a year back
  • Olive oil - 1/2 cup daily approx.
  • Known on food allergies
  • Taking Coffee is associated with sleepiness

Sleep

  • Sleep almost 3 hours a day without any REM PHASE and with L Siri in sleep increased to 7 hours with RAM phase of 3 hours 24 minutes

Family history 

  • Mother and Dad were on spectrum, but not diagnosed/treated.
  • Mother was diagnosed for fibromyalgia.
  • Father had heart attack in 40s.
  • Grand father had early death.
  • Grandmother has excessive skin elasticity 

Drug history 

  • Ribose - at night 2gm, before major exercise 2g Improvement in exercise fatigue 
  • L serine - 20 gm at Night improves sleep improves sweat and urination
  • nicotine - tried and heleped and harmed, may be other route and other dose.
  • vitamin B complex - improvement in symptoms, increase of symptoms if taken excessive 
  • antioxidant vitamins
  • fructose+antioxdants
  • keto diet - improves symptoms
  • iron folate supplemets - Improves symptoms 
  • antioxidant supplement pycnogenol - improves symptoms
  • D- mannose and glucosamine sulfate - no effect
  • amino acids - initial improvement in symptoms and later increase in symptoms
  • aspirin - 75 mg increase in symptoms
  • ashwagandha - increase in symptoms 
  • sulfur - increase in symptoms 
  • cimetidine for swelling - reduces swelling
  • NAC - improves symptoms
  • Tryptans improve head ache
  • Drug reactions to sulfa drugs and anti-malarial drugs

Diagnosis and management

  • Acute stress, oxidative stress from food,drugs precipitates hemolysis and leads to acute kidney injury presenting as generalised body Edema, dark coloured urine. Fluid retention in AKI should be causing pulmonary Edema, acitis, right heart failure and presenting as breathlessness. An episode of AKI consists of
initial phase for 36 hrs, 
maintainence phase is associated with decrease in urine output, hyperkalemic acidosis, uraemia, 
recovery phase, where there is increased urination -> loss of electrolytes which (might present as salt cravings)
Investigations during an episode of AKI should include
    • Fraction sodium excretion >1% suggests AKI
    • Urine creatinine elevated
    • EGFR
    • complete urine examination 
    • Blood electrolytes
Management during an episode of AKI
    • IV CALCIUM GLUCONATE to stabilise cell membrane potential if serum potassium more than 6.5mmol/L
    • Inhaled ß2 agonist, IV glucose, insulin to shift k+ into cells
    • IV sodium bicarbonate if acidosis
    • Diuretics to reduce fluid overload
    • Avoid high protein
    • Antibiotics to control infection 
    • Withdraw nephrotic drugs cimetidine, PPI
    • If severe renal impairment consider renal replacement therapy
    • Blood transfusion
  • Aetiology management( G6PD deficiency)
    • Reduce/avoid acute stressors
    • Avoid fava beans
  • Management of PCOS
    • This is explained by ectopic pregnancy, hirsutism, obesity
    • Investigations
      • Serum LH FSH, PROLACTIN
      • BLOOD GLUCOSE
    • anti androgen therapy
      • Cyproterone acetate
      • Spironolactone
      • Oestrogen
  • Management of migraine
    • This is a diagnosis of exclusion so other causes should be ruled out first
    • CT head for intracerebral mass, stroke, TIA
    • CSF Analysis to diagnose infections
    • Electrogram to detect seizures
    • preventive therapy includes Avoidance of triggers regular sleep mails hydration and maintenance of a headache diary pharmacology the treatments include But online a.m. talks and type A , monoclonal antibody is to calcitonin gene related peptide receptor
    • Treatment during symptoms include Tryptans and neuro modulation like single pulse transcranial magnetic stimulation and non-invasive Vagus nerve stimulation
  • Management of sleep disturbance
    • This is could be by AMPD1 deficiency so there is no specific treatment for this but L serine improves sleep
Reference:
Davidson principles and practice of medicine
Hutchinson clinical methods
Wikipedia
Current medical diagnosis and treatment


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