I have been given this case to solve in an attempt to understand the patient clincal data analysis in order to develop my competency in reading and comprehending clinical data

You can find the original case in the link below-


Following is my analysis on the patient's problem:

 
     MAIN COMPLAINTS:
  1. Migraine with Aura
  2. Sleep Disturbances
  3. Edema mainly confined to face and abdomen
  4. Increased Pain Tolerance
  5. Fatigue

   
   EACH COMPLAINT IN DETAIL:
  1.  MIGRAINE :
  • ONSET: Sudden
  • DURATION: Since 2 years of age
  • More towards the left side
  • Gradually progressive
  • ASSOCIATED SYMPTOMS:
    • Numbness of left hand and left face felt like someone was pouring ice water over the  cheek and also feeling of falling and spinning at night.
    • Preceded by AURA associated with transient loss of vision
    • Aura starts as a flicker and then eventually becomes a crescent that covers the entire centre of vision
  • PAST HISTORY: It was also associated with stuttering and memory loss as well as loss of function of left side and an episode of CSF rhinnorhoea from left nostril.
  • RELIEVING FACTOR : Medication (TRIPTANS )
  • PROBABLE DIAGNOSIS:
    • Hemiplegic Migraine
    • Infections like meningitis, encephalitis (but she doesn't have a fever, rash).
    • Brain tumours
    • Seizures with post-ictal paralysis
    • Mitochondrial Encephalopathy Lactic Acidosis and Stroke like episodes
      2. SLEEP DISTURBANCES:   
  • ONSET: Since birth
  • DURATION OF SLEEP: 2-4 hrs and no REM sleep
  • POSSIBLE CAUSES:
    • G6PD Deficiency impaired the glycolysis so glycine is not formed well . Glycine is also an inhibitory neurotransmitter.
    • AMPD1 Deficiency can cause sleep disturbances because Adenosine is an inhibitory neurotransmitter so it should help in sleep.
  • MEDICATIONS TAKEN: L-Serine , Cimetidine
      3.EDEMA CONFINED TO FACE AMD ABDOMEN:
  • ONSET: since 1 year of age
  • DURATION: approximately 40 years 
  • SITE: Face , Abdomen
  • AGGRAVATING FACTORS: Emotional Stress , Eating wrong food such as Fava beans , Exercise , Smoke
  • RELIEVING FACTORS: Rest
  • POSSIBLE CAUSES:
    • Hemolytic anaemia could have led to right heart failure thus leading to pulmonary hypertension causing shortness of breath
    • emotional stress and eating fava beans because she has G6PD Deficiency.
    • This anaemia could be responsible for kidney infections as G6PD is required for producing NADPH which in turn is needed by the kidneys for their functioning. In G6PD deficiency, she could have had low NAPDH levels and thus kidney infections.
  • TREATMENT:
    • Avoid stress
    • Do not consume fava beans, sulpha drugs, antimalarials
    • Excess salt consumption
      4. INCREASED PAIN TOLERANCE:
  • Onset - since 4 years of age, still present
  • ASSOCIATED COMPLAINS:
    • History of multiple falls
    • Fracture of ankle
  • PROBABLE DIAGNOSIS:
    • Osteoarthritis could be responsible for multiple fractures.
    • CIPA (Congenital Intolerance to Pain With Anhydrosis ) 
       
       5. FATIQUE:
  • POSSIBLE CAUSES:
    • AMPD1 deficiency - lack of ATP hence the person gets easily tired.
    • Past history shows parents to be chain smokers which increases the oxidative stress.
    • Oxidative stress from excess of free radicals because of G6PD deficiency
  • TREATMENT: Ribose - provides ATP.       
   
OTHER PROBLEMS:
  • PCOS has led to:
    • Dysmenorrhoea
    • Hair Loss
    • Ectopic Pregnancy
  • Potential sensory disorder
  • Severe Mood disorder
  • Rashes on face-could be due to SLE
  • Anxiety, depression, ADHD, Autism spectrum??
    FINAL TREATMENT OPTIONS:
  • Symptomatic treatment has to be done as there is no cure.
  • Avoid oxidants 
  • For hemolytic anemia: blood transfusion based on severity of anemia.
  • Ribose diet-to reduce weakness
  • L-serine for sleep disturbances
  • Cimetidine for swelling
  • cut down oxidative stress
  • Antioxidants 
  • NAC 
  • Iron folate supplements
  • Salt intake

RECENT UPDATE:
The patient has been diagnosed of BEHCET'S DISEASE which may be the reason for her rashes and mouth ulcers.


CERTAIN THINGS THAT REMAINED UNEXPLAINED:
  -Failure of LASIK Surgery??

      
  FUTHER INVESTIGATION SUGGESTED:
 Advanced Diagnostic modality like Whole genome sequencing  


REFERENCE
  • https://www.egl-eurofins.com/tests/?testid=SAMPD
  • https://www.mayoclinic.org/diseases-conditions/behcets-disease/symptoms-causes/syc-20351326
  • Dr. Avinash's Blog
  • Wikipedia


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