The demographic details of the patient are given in the link https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1
This is a case of a 42 year old female with severe health problems since birth which are
1) Swelling (face and abdomen)
H/o swelling since age 1till date
Mainly in the face, neck and abdomen area
It triggers on exposure to emotional stress, smoking,exercise, and eating any wrong food
Reason for this is hemolytic crisis due G6PD deficiency for which she is diagnosed last year
Investigations:
CBP and peripheral blood smear
Direct and indirect bilirubin levels
SGOT and SGPT levels
Chest XRay
Haemogram
Urine examination for any infection
LFT
Treatment:
cimitidine
Avoid stress and have food rich in antioxidants
2) Head ache
Started at age 2 and became worse by age14
Preceded by aura and also associated with numbness in left side of face
Increased in severity over time
Reason could be hemiplegic migraine , or any tumor
Investigations :
CT and MRI of Brain
CSF analysis
EEG
Intracranial pressure
Treatment:
Triptans like sumatriptan
Anti nausea medications
3)Difficulty in breathing
Not able to breathe properly from very young age
Reason could be right heart failure due to G6PD deficiency which is diagnosed
Investigation:
Chest XRay
BNP levels to rule out heart failure
Treatment:
Oxygen therapy
Ruling out underlying cause and its treatment
4) Fatigue
Complains of easily getting tired
Reason could beoxidative stress due to G6PD deficiency and AMPD1 deficiency
Treatment:
Ribose given helps her by direct source of energy to cells
5) Left sided weakness
Loss of function of left side of body along with numbness on left side of face mainly during migraine attacks
Frequent falls to left side and broke ankle by fall from stairs
6) Sleep disturbances
Duration 2 to 4 hours
No REM sleep
Treatment:
L serine helps for good quality sleep
Other complaints :
Excessive hair at age of 3 and also history of ectopic pregnancy and dysmenorrhea
Increased pain tolerance WNK1 hereditary sensory neuropathy
Rashes on face(2 to 4 times a year ) and same time warts and EBV reactivated
Increased risk of infections
Sensory disorder clothes and physical contact are unbearable
Treatment:
Ribose diet
L serine for sleep
Reducing oxidative stress
Vitamin B complex
Anti oxidantvitamins
Fructose and antioxidant
Keto diet
Iron folate medications
Cimetidine for swelling
Salt and butter
