A 42 year old with multiple health events
I've been given this case to solve in an attempt to understand the topic of "patient clinical data analysis" to develop my competency in reading and comprehending clinical data including history, clinical findings, investigations and come up with a diagnosis and treatment plan.
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 I found are
- Migraine with aura
- Sleeplessness
- Breathing difficulty
- Swelling
- 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 center 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 had left sided headache .
- TRIGGER FACTORS : obesity, parents being chain smoker, Depression, sleeping pills .
- PROBABLE CAUSES :
- Hemiplegic Migraine ,
- Ischemic stroke ,
- Behect's Disease ,
- Brain tumors ,
- Mitochondrial encephalopathy Lactic Acidosis and Stroke like episodes .
- INVESTIGATION : CT and MRI scan of brain .
- TREATMENT : Triptans .
2. SLEEP DISTURBANCES:
- ONSET: Since birth .
- DURATION OF SLEEP: 2-4 hrs and no REM sleep .
- POSSIBLE CAUSES:
- G6PD Deficiency causes impairment of glycolysis, there by inhibiting the formation of glycine . 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 gene mutation .
4. Swelling:
- ONSET : since 1 year of age
- DURATION : approximately 40 years
- SITE : Face , Abdomen
- AGGRAVATING FACTORS :
- Emotional Stress ,
- Eating Fava beans ,
- Exercise ,
- Smoke,
- Excess salt consumption .
- RELIEVING FACTORS : Rest and fasting
- PROBABLE 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.
- Cushing's disease .
- INVESTIGATION : Chest X-ray, ECG, Haemogram, Liver function test (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 ) .
- INVESTIGATION : Genetic testing (NTRK1 gene), X-ray of lower 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 which explains her craving for salt, delayed developmental milestone, 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 inverstigation for fibromyalgia.
? Cystic fibrosis :
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 and issue.
CURRENT TREATMENT :
- 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
- NON PHARMACOLOGY : Avoid exertion and fava bean .
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 dietician 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 localised ) - Detailed inspection of whole body
- Fever ?
- PCOS treatment?
- Why only lefted sided hemiplegia?
- LASIK failure ?
- CT and MRI brain ?
- Genetic testing CRTF?
- Why did she woke up in the middle of the surgery ?
