CASE OF A 42 YEAR OLD FEMALE (BY PRADEEP SURIGALA ROLL NO:159)

CASE OF A 42 YEAR OLD FEMALE (BY PRADEEP SURIGALA ROLL NO:159)

May 16, 2020

• This is a case of 42 year old female with multiple health events since birth  .
• The entire case details of this patient can be found in the link below.
•  https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1
• The information provided in this blog is regarding my analysis on clinical data of this patient.

       Her problems are as follows

1. SLEEP - She sleeps for 2-4 hours only once in a day and sometimes twice without REM. She has been having this issue since birth. For her sleep issues she took L-serine and cimetidine which helped her most with the sleep. 
2. URINARY TRACT INFECTIONS  - At the age of 4 she had an attack of streptococcal throat infection which may be the reason for kidney infection ( PSGN ). She mention that she had a tipped uterus which might be the reason for recurrent UTI. This may have a retrograde progress and lead to kidney infections.
3. HEADACHES - She complained of severe headaches since age 2 which are later diagnosed as migraine with aura at the age of 32. The reason for her migraine may be her sleeplessness and anorexia. For migraine she has been using triptans.
4. MOOD DISORDER - Present since birth. Temper tantrum, irrational anxiety, anger , fear, attempt to suicide are some of her mood disorder symptoms.
5. SENSORY DISORDER - Clothes and physical contact made her uncomfortable. She had higher pain tolerance but cannot focus on pain.
6. ANEMIA - She is diagnosed with hemolytic anemia due to G6PD deficiency. But her Hb count RBC count and bilirubin levels are normal.
7. AMPD1 deficiency is present. This is responsible for her easy exertion on slight exercise.
8. MULTIPLE SPRAIN ANKLE AND KNEES - Since age 4 .She also broke her leg while dancing at age 30.
9. RASHES ON FACE - Usually occurs 2-4 times a year with other issues and at the same time my warts and EBV reactivate. EBV may explain some of her premalignant lesions. EBV may cause dermatomyositis which may be responsible for her ankle sprain and skin rash.
10. SWELLING - Her face ,neck and abdomen swells up on intake of food, exposure to smoke, slight exercise and stress. Swelling relives on fasting and urinating large amounts . Ribose and cimetidine also helped in reliving in swelling. She almost never sweats and cimetidine made her sweat.
11. LUNG INFECTION - First episode at the age of 4 and got hospitalized for more than 3 times and got vaccinated for pneumonia at the age of 28.
12. AUTISM - She is diagnosed with adhd/autism at the age of 35.
13. LEFT SIDE HEMI PARASIS - Associated with stuttering and memory loss would come and go for months
14. BEHCETS - She is diagnosed with behcets recently with might be the cause of her migraine.

FAMILY HISTORY:

• Both the parents are chainsmokers.
• Father had heart attack in 40's.
• GrandFather had early death due to some cardiac issue.
• GrandMother had a history of waking up during surgery .Patient also had the similar history.
• Mother was diagnosed with fibromyalgia which may raise a susception of fibromyalgia in our patient too because of some of her symptoms ( altered sleep, mood disturbances , muscle pain and tenderness) and risk factors ( female preponderance, stress , family history).

GENETICS:

•  On evaluating her genetics it was found that she had an Increased risk for Alzheimers, ADHD, Autoimmune thyroid & other autoimmune disorders, lung cancer, cluster headache, Obesity, raised ICP, Diabetes, RA, Bipolar disorders, Lung cancer and issues.

ALLERGIC HISTORY:

• She is allergic to favabeans and sulfa drugs.

TREATMENT:

• L-Serine 20 gm at night,
• Ribose 2 gm every hour in water, if any major exercise or exertion.
• 400mg cimetidine
• 600mg NAC
• Iron folate 500% of RDA

             ON ANALYSING ALL HER PROBLEMS, INVESTIGATIONS AND TREAMENT MODALITIES SHE HAS UNDERGONE, I SUPPOSE THAT THE PROBLEM SHE IS HAVING IS NOT A SINGLE ENTITY BUT IT IS A  CLUSTER OF DISORDERS WITH GENETICAL BACKGROUND FOR WHICH WE CAN ONLY PROVIDE  PALLIATIVE TREATMENT TO MAKE HER LIVING COMFORTABLE AND PAIN FREE.

             I ADVICE HER TO HAVE AN ADVANCED DIAGNOSTIC MODALITY LIKE WHOLE GENOME SQUENCING TO GET DONE TO KNOW ABOUT ANY GENETICAL PROBLEMS STILL UNDIAGNOSED.

SOME OF THE UNEXPLAINED ISSUES IN THIS CASE ARE:

• Her urge to salt intake inspite of her anhydrosis and decreased urination. Where is all her salt going if she is not sweating and urinating. There should be some sort of hypernatriemia. and why is it not happening.
• Why did she have excessive hair growth initially and excessive hair loss later.
• Proper family history is not provided to relate her genetical prblems with the consanguinty of their parents marriage.
• Rapid fluctuations in her weight . Why is she swelling up on eating. What is happening to her basal metabolism.
• Swelling which she has been complaining has not been explained properly. was is a kind of pitting or nonpitting type or is associated with any kind of rash etc.
• She said that once she heard a popping sound in her head and fluid leak through her left nostril. what kind of fluid it is. was it csf or its just nasal secretions. what happened to her intracranial tension if there is a fluid leak for 10mins.
• She was diagnosed with hemolytic anemia but none of lab reports showed signs of hemolysis. 
• Pradeep rollno:159