Case of a 42 yr old female with multiple health events since birth
A 42 yr old female presented with multiple health events since birth.
CHIEF COMPLAINTS :
1. Swelling of face
2. Sleep disturbances
3. Fatigue
4. Reduced urine output with dark coloured urine
ELABORATION OF COMPLAINTS :
1. SWELLING -
- Aggrevating factors : emotional stress, smoke, eating wrong food
- Relieving factors : rest
* POSSIBLE CAUSES -
. Allergic to food like fava beans
. Kidney infection
. Chronic anemia
. G6PD deficiency
. Hypothyroidism
. Cushings syndrome
* INVESTIGATIONS -
. Complete blood picture
. Renal function tests
. Hypersensitivity testing for allergies
. Thyroid profile
. Thyroid function test
* TREATMENT -
. Avoid the possible allergen
. Avoid stress
2. SLEEP DISTURBANCES -
- Onset : since birth
- Duration : 2 - 4 hrs with no REM
* POSSIBLE CAUSES -
. Adenosine monophosphate1 deficiency
. Psychiatric problems
* TREATMENT HISTORY -
. L- serine 20gm at night
. Ribose
3. FATIGUE -
- Aggrevated on exertion
- Relieved on rest
* POSSIBLE CAUSES -
. Hemolytic anemia
. G6PD deficiency
. Adenosine monophosphate1 deficiency
. Starving
4. There is reduced urine output with dark coloured urine due to G6PD deficiency as there is hemolysis occurring due to destruction of RBC leading to dark coloured urine
PAST HISTORY :
- AT BIRTH :
. Severe jaundice
. Tongue tie and upper lip tie
- AT 2YRS :
. Onset of severe headache
- AT 4YRS :
. Chronic UTI
. Kidney infection
. Lung infections
. Multiple sprained ankles and knees
. Severe mood disorder present
- AT 12YRS :
. Diagnosed for Cervical degeneration and
scoliosis seen
- AT 15YRS :
. Suicidal tendencies present
. Diagnosed with anorexia
- AT 30YRS :
. History of broken leg
- AT 32YRS :
. Infected with swine flu (H1N1)
- AT 34YRS :
. Severe headache on left side which led to vision loss and stuttering
. Intermittent loss of function of left arm
- AT 35YRS :
. Diagnosed with ADHD/autism spectrum disorder by therapist and psychiatrist
- 1YR AGO :
. History of fall from stairs causing sprained and broken left ankle
OBSTETRIC HISTORY :
- History of ectopic pregnancy
MENSTRUAL HISTORY :
- Menarche : 14yrs
- During menses : severe headache and abdominal pain present
- Diagnosed with PCOS
FAMILY HISTORY :
- Mother diagnosed for fibromyalgia
- Father had heart attack in early 40's
- Grandmother has history of waking up during surgery
DRUG HISTORY :
- Allergic to sulfa drugs, antimalarials
SURGICAL HISTORY :
- LASIK done at 35yrs age which failed and diagnosed as dyslexic
PERSONAL HISTORY :
- Diet : An apple once a day
- Sleep : Inadequate
- Bowel and Bladder movements : Regular
- Appetite : Reduced
INVESTIGATIONS :
- MRI and CT of spine
- Antibody detection for EBV : not active
- Cortisol levels 2yrs back High DHEAS and high 17-hydroxypregnenolone
- ECG impression : sinus tachycardia
- Complete blood count
- Lipid profile
* 1YR AGO DIAGNOSED WITH G6PD DEFICIENCY AND AMNP1 DEFICIENCY
RECENT UPDATE : DIAGNOSED WITH BEHCET'S DISEASE
TREATMENT :
- Symptomatic treatment given
- Avoid triggers like oxidants
- Other options :
. Ribose diet
. L- Serine for sleep
. Avoiding oxidative stress
. Iron foliate supplements
. Cimetidine
. Ketodiet
. Fructose + antioxidants
ADVICE :
- ADVANCED DIAGNOSED MODALITY LIKE WHOLE GENOME SEQUENCING MUST BE DONE.
