CASE OF A 42 YEAR OLD FEMALE

May 16,2020

  The  following is a case of a 42 year old female with multiple events since birth.
  
The problems in the order of priority are:
  1. Swelling
  2. Migraine associated with left sided muscle weakness
  3. Anhidrosis,Oliguria
  4. Fatigue
  5. Sleeplessness
Reasoning:
  1. SWELLING could be due to water retention as she consumes a lot of salt or due to HEREDITARY ANGIOEDEMA SYNDROME since she swells up in the gut,face and fingers.HAS is triggered on emotional stress,physical activity,activity causing pressure changes in the body or any illnesses.
  2. MIGRAINE with aura maybe due to hormonal fluctuations(she mentions exacerbations before her menstruation and when she used OCPs),lack of sleep,smoke ,fasting and excess intake of salt also causes migraine.
  3. ANHIDROSIS,OLIGURIA is believed to be caused due to ooxidative stress in the kidney causing ion imbalance caused due to G6PD deficiency,bell's palsy,Horners syndrome.
  4. FATIGUE maybe due to AMPD1 deficiency which led to ATP depletion,oxidative stress from G6PD deficiency.
  5. SLEEPLESSNESS maybe due to AMPD1 deficiency.
Demographic details :
 
Chief complaints : 

1. Frequent falls to the left. Left foot started giving out as well as hands. One fall downstairs sprained and broke ankle last year.Poor stress response.

2. Swelling or hair loss.fatigue.jaw pain into the face.

3. Breathing difficulties.

4.Intolerance to foods,smoke.

5.Always less urination especially when fasting.

6.Poor sleep with just 2-4 hrs .

Drug history :

1.L serine 20 gm at night.

2.Ribose 2gm every hour in water,if any major exercise or exertion.

3.400mg Cimitidine.

4.600mg NAC.
 

Patient history (briefly):
Birth - 1 year.

Severe Jaundice
Did not sleep. (very less, 2-4 hours only once in a day)
3 Year
Began shaving. Excessive hair growth on face/neck/toes/ and legs.

Still only sleeping 2-3 hours.
4 Years
Chronic UTI
Kidney infections
Strep throat
Lung infections
Multiple sprained ankles and knees.

(hospitalized 3 times for above issues as a kid and once as an adult later).

Since being vaccinated for pneumonia at age 28 no hospitalization for lung issues.

Severe reaction to sulfa drugs (Given as infant, mother said).

Severe headaches (since age 2).
Migraines entire life- interfered with school life and still have them.
12 years age - got diagnosed for cervical degeneration and scoliosis seen on x-rays for lung infection
15 year age -  headache severity increased to the point unable to get out of bed- forced to go to school. Attempted suicide. Put in managed care- having very difficult situations.
 began to gain weight.Was about 95 lbs at 5ʼ4 inches .
21 year age- ectopic pregnancy. Fearful of docs after past experience and had to pass out before being rushed for surgery. 
After surgery, scar revision/wound debridement- again awoke during surgery.
22 year age- chronic abdominal pain around periods. CT showed multiple ovarian cysts- diagnosed. PCOS.
23 year age- Hospitalized for 2 weeks for severe (worst ever) kidney infection and pneumonia at the same time.
Type aB melanoma and 4 precancerous tissues removed seen while in hospital.
24 year age- worsening migraines, ovarian cysts and pain but bearable.

32 year age- Severe reaction to antimalarials- was in remote Ethiopia (was NGO trip and then stayed longer to explore and visit friends.)
35 year age- after “failed” LASIK for her poorvision.

35 year age- Diagnosed adhd/autism spectrum by therapist and psychiatrist.
34 year age- Migraines increased. Left hand going numb probably potential hemiplegic migraine was at play. Had a dose of triptans.

 genetic test done last year having G6PD deficiency and AMPD1 Deficiency.

INVESTIGATIONS:
SWELLING
Heart rate from a recent normal day 83 beats per minute.
hemogram depicts anemia
CXR : left atrial enlargement
ECG : signs of right heart failure
SGPT,SGOT : elevated in this case suggestive of hemolysis
COMPLETE URINE EXAMINATION to check for any infection.
TOTAL BILIRUBIN should be elevated

MIGRAINE
CSF analysis to diagnose infections
EEG to detect seizures
CT,MRI OF brain

ANHIDROSIS,OLIGURIA
Renal ultrasonography
Voiding cystourethrography
Sweat test
Skin biopsy

SLEEPLESSNESS
Polysomnography
CT,MRI brain

TREATMENT
There is no cure as it is genetic. The treatment should be given for the symptoms.

SWELLING
  • Avoiding stress
  • Do not consume fava beans,sulpha drugs,antimalarials
  • Excess salt consmption
MIGRAINE
  • Triptans
  • Carotid artery angioplasty
  • Seizures - antiepileptics
ANHIDROSIS,OLIGURIA
  • Antimicrobials for kidney infection
  • hydration with oral fluids
  • corticosteroids like prenisolone
FATIGUE
  • Ribose
  • adequate food intake
SLEEPLESSNESS
  • L-Serine    
  • Congnitive behavioural therapy

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