A 42 year old female with multiple health events
You can find the entire real patient clinical problem in this link here..
Following is my analysis of this patient's problem:
The problems in order of priority according to me are
1)Migraine with aura
2) Sleeplessness
3) Breathing difficulty
4)Swelling
5) Multiple falls
1) MIGRAINE WITH AURA associated with left sided decreased function
ONSET: Sudden
DURATION: Since 2 years of age
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 and stuttering
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 rhinorrhea from left nostril and left sided headache.
PROBABLE CAUSES :
-Hemiplegic Migraine
-Ischemic stroke
-Behects Disease
-Brain tumors
-Mitochondrial Encephalopathy Lactic Acidosis and Stroke like episodes
Trigger factors are obesity, parents being chain smokers, Depression, sleeping pills
INVESTIGATIONS :
CSF ANALYSIS
EEG
CT,MRI OF BRAIN
TREATMENT : TRIPTANS
2)SLEEP DISTURBANCES:
ONSET: Since birth
DURATION OF SLEEP: 2-4 hrs and no REM sleep
POSSIBLE CAUSES:
-G6PD Deficiency impairment of glycolysis inhibiting glycine formation . Glycine is also an inhibitory neurotransmitter.
-AMPD1 Deficiency can cause sleep disturbances because Adenosine is an inhibitory neurotransmitter so it should help in sleep.
-Chronic depression can also lead to insomnia
INVESTIGATIONS:
EEG
POLYSOMNOGRAPHY
TREATMENT : L-Serine , Cimetidine
3)BREATHING DIFFICULTY :
ONSET: since 1 year of age
Repeated episodes of pneumonia and asthma
PROBABLE CAUSES :
- Cystic fibrosis since she has repeated episodes of pneumonia - Increased risk for crohn disease, diabetes, fatty liver, osteoarthritis, depression and delayed milestones.
- To confirm the diagnosis we need to do genetic testing for CFTR mutation
INVESTIGATIONS :
CHEST XRAY
4) SWELLING :
ONSET: since 1 year of age
DURATION: approximately 40 years
SITE: Face , Abdomen
AGGRAVATING FACTORS: Emotional Stress , Eating food such as Fava beans , Exercise , Smoke, excess salt consumption
RELIEVING FACTORS: Rest and fasting
POSSIBLE CAUSES :
- Since childhood she has been on salt diet which may cause water retention in the body and causing decreased sweating and urination and also leading to the swelling of the body
- Emotional stress, talking sulfa drugs and antimalarial drugs and eating fava beans causing oxidative stress to the body as she has G6PD Deficiency
- Her blood profile suggesting elevated auto monocytes and poor liver function tests with mild hemolysis could justify the diagnosis of hemolytic anemia
- Since she has G6PD deficiency it might have acted as a trigger for the hemolytic anemia causing right heart failure which lead to ascites and shortness of breath
-Addisons disease
INVESTIGATIONS DONE :
HEMOGRAM
CXR
ECG
LFT
TREATMENT:
-Avoid stress
-Do not consume fava beans, sulpha drugs, antimalarials
5. MULTIPLE FALLS
ONSET - since 4 years of age, still present
ASSOCIATED COMPLAINS:
-History of multiple falls and pain intolerance and fatigue
-Fracture of ankle
PROBABLE DIAGNOSIS:
-AMPD1 deficiency causing muscle weakness and left sided hemiplegia causing walking difficulty may lead to instability causing multiple falls.
-Osteoarthritis could be responsible for multiple fractures as she was positive for DIO2 gene
-CIPA (Congenital Intolerance to Pain With Anhydrosis )
INVESTIGATIONS :
Genetic testing for CIPA( NTRK1 Gene)
X RAY of limbs
TREATMENT
-For AMPD1 deficiency,RIBOSE is taken.
PROBABLE CONDITIONS she may have
? Congenital Adrenal Hyperplasia
It may be a possible case of CAH since childhood as her 17 OH Pregnenolone and DHEAS are elevated which maybe due to 3-BHSD enzyme deficiency explaining her craving for salt, delayed developmental milestones, excessive hair growth since age 3, PCOS and her cortisol based diet .
? Fibromyalgia
As her mother has history of fibromyalgia, she is at risk of developing it . Symptoms such as Rash associated with EVB infection, Left ventricular enlargement, depression, anxiety, wide spread pain, fatigue, cognitive difficulties(like fiber fog) with other comorbidities like migraine, lower jaw pain suggestive of Fibromyalgia.
We need detail history regarding pain to confirm the diagnosis as there is no diagnostic investigation for fibromyalgia.
- Bechets disease - As she has bleeding ankle, left sided weakness, oral and vaginal ulcers
- G6PD Deficiency and AMPD1 deficiency
- Hemolytic Anemia
CONCLUSION FROM GENETIC WORKUP :
-Increased risk for Alzheimer's, ADHD, Autoimmune thyroid & other autoimmune disorders, lung cancer, cluster headache, Obesity, raised ICP, Diabetes, RA, Bipolar disorders, Lung cancer
MEDICATIONS RECEIVED :
PHARMACOLOGICAL :
- L-Serine 20 mg at night to improve sleep
- Ribose 2 gm every hour with water
- Cimetidine 400 mg to reduce swelling and in reducing androgens
- NAC 600 mg to increase glutathione antioxidants
- Iron folate 500% of RDA
-Avoid oxidative stress,flava beans
-Avoid exertion
CURRENT DIET:
- An apple once a day since many years.
- Now a days, 5% carbohydrates in diet, 95% other.
- Have tried many type of diets.
- Had been sick when followed dietitian a year back
- Real unprocessed food
- Olive oil - 1/2 cup daily approx.
ADDITIONAL HISTORY AND INVESTIGATIONS REQUIRED
-Detailed ENT and CNS examination
-Rash? generalized or localized ? - detailed inspection of the whole body
-Fever ?
-PCOS treatment?
-Why only left sided hemiplegia?
-LASIK failure ?
-CT MRI brain ?
-Genetic test CRTF?
- Why did she wake up during surgery?
