Thoughts on case of a 42 year old female patient.

The following are my thoughts on the case presented.

 The patient is a 42-year-old female. 


 Neurological Symptoms

The patient gave a history of delayed development associated with multiple neurological symptoms.

  •         Left hand and left side of face felt numb.
  •         Loss of vision which was on and off (the patent can’t remember the duration and events during headache episodes).
  •         This was followed by stuttering and memory loss as well as loss of function of left side with the patient unable to walk or turn head to the left side. Left foot started deviating out as well as hand.  
  •        The patient has always had fits of anger associated with aggression, anxiety, sensory disorders, severe headaches. Aura description- It always starts as a small flicker in the upper left and then eventually becomes a crescent that covers the entire centre of vision. Rainbow colours and movement. In the last year had some instances where it was a line or circle that was solid and black.
  •        Headaches were preceded by aura and associated with numbness and vertigo.
  •        She had a history of CSF rhinorrhoea.

Her neurological symptoms can be attributed to Glycine deficiency due to G6PD deficiency. This might cause cerebral oedema. Oxidative damage to the brain because of depleted NADPH might be responsible.) Other differential diagnosises may be meningitis, encephalitis(no fever), brain tumors, vestibular disorders, cerebellar disorders and stroke .

Relevant investigations are MRI (brain), CT Scan (head and neck), EEG and CSF analysis.

 

Sleeplessness
 This complaint has been present since birth.

·       Patient wakes up at night with a raise in heart rate.

G6PD deficiency cause impaired generation of glycine which causes imapairment in seratonin level so thwre are sleep disturbances.

Relevant investigation is EEG.

Fluctuating Edema

Edema was extremely fluctuating within days.

  • The trigger points as mentioned by the patient were emotional stress, eating fava beans, exercise in excess, smoke.
  • It relieved spontaneously.
  • Associated with SOB and dark urine.

·       These features are suggestive of G6PD deficiency which causes damage to the organs like kidney by free radicals because of lack of NADPH.
Kidney needs a lot of energy for ions active transport and water balance in the body. The Oedema has occurred because of excessive loss of ions.
Haemolysis caused because of G6PD deficiency is responsible for fatigue and shortness of breath because of reduced red blood cell count. The same must have been the reason for dark coloured urine also as complained by the patient.

      Relevant investigations are CBP, AST,ALT levels, ECG, 2D Echo. 

    Fatigue  

  •     This must have caused directly because of haemolytic anemia and less red blood cell count. AMPD1 deficiency causing muscle weakness because OD decreased aerobic input and increased anaerobic output.  

     

     Other Complaints  

  • 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

Treatment:

  • Ribose diet
  • L serine for sleep
  • Cutting oxidative stress 
  • Vitamin B complex
  • Antioxidant vitamins
  • Fructose + antioxidants 
  • Salt + butter
  • Keto diet.
  • Iron and folic acid supplementation
  • Antioxidant supplement  
  • Cimetidine for swelling - tried and helped
  • NAC

You can find the entire real patient clinical problem here:(https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1)

   


                                                                                                                                                                 



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