E Log book | BY HARSHINI BEECHUPALLY, ROLL NO 26, MBBS 8TH SEMESTER

  GENERAL MEDICINE CASE DISCUSSION   

 HARSHINI BEECHUPALLY|Roll no 26

                                                                      

The case of a 42-year-old female with multiple heath events since birth, the patient came to the department with the chief complaints of

      1)Headache

      2)Swelling which is confined to face and abdomen

      3)Sleep disturbances

      4)fatigue

      5)Increased tolerance to pain

     6)decreased urination

     

     

HISTORY OF PRESENTING ILLNESS:

Headache: 

• Onset-Sudden
• Progression -gradually progressive 
• Duration-since 40 years 
• Site-towards the left side 
• Associated with aura - it starts as a small flicker in the upper left and then becomes crescent and then covers the entire vision
• Relieved on medication

From the above complaints, the probable diagnosis could be-

• HEMIPLEGIC MIGRAINE
• Infections like meningitis, encephalitis
• tumours of brain

Investigations:

based on the information she was diagnosed with hemiplegic migraine at the age of 15 from then she started using medication

• CT and MRI of the brain to detect the tumours, stroke
• CSF analysis to detect the infections
• EEG to detect seizures
• Detect the intracranial pressure

Treatment:

• Triptans (she was diagnosed for the migraine at 15 years of age )
• surgery for the TIA       
• Antiepileptics for seizures  

Swelling:

• Onset: since one year of age
• progression-she noticed it mainly after an episode of having food, hence it is intermittent
• Duration-since one year of age
• site-face, abdomen
• Aggravating factors- stress, eating fava beans, exercise, smoke
• Relieving factors -rest
• associated with shortness of breath

Investigations to be done in this case :

• ECG-shows right heart failure?
• chest x-ray or endoscopy to detect hiatal hernia
• CUE to detect any underlying kidney disease which may result in oedema

Causes for swelling:

•  she could be right heart failure responsible for ascites and shortness of breath due to the pulmonary hypertension
• shortness of breath may also be due to the hiatal hernia 
• as G6PD is responsible for the production of NADPH, she has its deficiency hence absence of it results in the loss of ions leading to the oedema
• increased on eating fava beans as she has g6pd deficiency
• any underlying pathology in the kidney may also result in oedema

Treatment:

• avoid stress
• do not consume fava beans
• diet: excess salt consumption 

Sleep disturbances :

•  Onset-since birth
• Duration of sleep- 2 to 4 hrs, REM type

Causes:

• AMPD1 deficiency can cause sleep disturbance because adenosine is an inhibitory neurotransmitter responsible for the sleep
• G6PD deficiency glycolysis is impaired so glycine which is an inhibitory neurotransmitter production is effected

Treatment:

• L serine
• cimetidine

Exercise-induced fatigue :

Causes:

• G6PD deficiency leads to the oxidative stress which may induce fatigue
• AMPDD1 deficiency lack of ATP
• She was diagnosed with jaundice at the age of one, now we are suspecting her to have g6pd deficiency, because of this the reduced glutathione which is responsible for the integrity of the RBC membrane and also to keep the HB in the ferrous state is deficient, which results in the haemolysis and probably the dark colour of the urine is because of this and even the fatigue.

investigations to carried :

• hemogram -which may show anaemia
• SGPT, SGOT -elevated because of the haemolysis 
• LDH for haemolysis
• HEINZ BODIES  characteristic of this deficiency are observed 

Treatment:

• Ribose 2 gm every hour in water helped her to produce ATP
• Iron folate tablets 

Increased tolerance to pain:

• Onset-since 4years of age 
• associated with the history of fractures (ankle), h/o multiple falls

Investigations :

• x rays to diagnose the osteoarthritis

Decreased urination:

causes:

the patient has given the h/o oliguria which might be due to the oxidative stress in the kidney due to the deficiency of the enzyme causing ion imbalance 

the dark colour of the urine might be due to the haemolysis which may cause an increase in the levels of the urobilinogen

Investigations:

• Renal USG
• Voiding cystourethrography 
• CUE

Treatment:

• Antimicrobials for urinary infection
• oral fluid therapy
• corticosteroids

Other problems :

PCOS -

• dysmenorrhea
• Ectopic pregnancy
• Increased hair loss

Bipolar disorders, anxiety, depression

ADHD-because of ANKK1 mutation

Recurrent infections due to oxidative stress

Mouth ulcers, genital ulcers, failed LASIK surgery probably due to behcets which was diagnosed recently

PAST HISTORY :

Birth - 1 year.

Severe Jaundice
Did not sleep. (very less, 2-4 hours only once in a day)
3 Year
Began shaving. Excessive hair growth on face/neck/toes/ and legs.

Still only sleeping 2-3 hours.
4 Years
Chronic UTI
Kidney infections
Strep throat
Lung infections
Multiple sprained ankles and knees.

(hospitalized 3 times for above issues as a kid and once as an adult later).

Since being vaccinated for pneumonia at age 28 no hospitalization for lung issues.

Severe reaction to sulfa drugs (Given as infant, mother said).

Severe headaches (since age 2).
Migraines entire life- interfered with school life and still have them.

12 years age - got diagnosed for cervical degeneration and scoliosis seen on x-rays for a lung infection
15 year age -  headache severity increased to the point unable to get out of bed- forced to go to school. Attempted suicide. Put in managed care- having very difficult situations.
 began to gain weight. Was about 95 lbs at 5ʼ4 inches.
21 year age- an ectopic pregnancy. Fearful of docs after past experience and had to pass out before being rushed for surgery. 
After surgery, scar revision/wound debridement- again awoke during surgery.
22 year age- chronic abdominal pain around periods. CT showed multiple ovarian cysts- diagnosed. PCOS.
23 year age- Hospitalized for 2 weeks for a severe (worst ever) kidney infection and pneumonia at the same time.
Type aB melanoma and 4 precancerous tissues removed seen while in hospital.
24 year age- worsening migraines, ovarian cysts and pain but bearable.

32 year age- Severe reaction to antimalarials- was in remote Ethiopia (was NGO trip and then stayed longer to explore and visit friends.)
35 year age- after “failed” LASIK for her poor vision.

35 year age- Diagnosed ADHD/autism spectrum by therapist and psychiatrist.
34 year age- Migraines increased. Left hand going numb probably potential hemiplegic migraine was at play. Had a dose of triptans.

 a genetic test was done last year having G6PD deficiency and AMPD1 Deficiency.

Diet:

an apple once a day,

Have tried many types of diets.

Had been sick when followed dietician a year back.
Olive oil - 1/2 cup daily approx.

Family history:
Mother was diagnosed with fibromyalgia.

Father had a heart attack in the 40s.

Grandfather had an early death.

Genetics
Seattle type G6PD deficiency

AMPD1 - AMPD1 deficiency heterozygous

MTHFR - homozygous for C677T of MTHFR = 10-20% efficiency in processing folic acid = high homocysteine, low B12 and folate levels

WNK1 mutation

HLA-DRA - 3x higher risk for developing a peanut allergy In populations of European ancestry

VWF - association with Von Willebrand disease type 1

DIO2 - the 1.3-1.79x risk of osteoarthritis, 3.75x bipolar, etc.

CHRNA5 - higher risk for nicotine dependence, lower risk for cocaine dependence

ANKK1 - Tardive Dyskinesia risk, higher ADHD risk. More Alcohol Dependence. Lower risk of Postoperative Nausea. Increased obesity.

TG - 1.3x to 11.5x Increased risk of autoimmune thyroid disease

LOXL1 LOXL1-AS1 - common but 10x higher glaucoma risk in most (but not all) populations

PNPLA3 - increased liver fat, odds of alcoholic liver disease

BACE1 - 2x increased ALZ risk in ApoE4 carriers

BSN - 1.1x risk Crohn's Disease

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 issues,


INVESTIGATIONS:

Heart Rate from a recent normal day 83 beats per minute.

EEG REPORT : 


On 1st day L-Serine
Oedema changes within a week

1 week apart




1 Day apart 

Infant (frontal bossing showing high ICP)





MRI CT SPINE:






Fracture (Broke other ankle again last June after falling. Was put in a walking boot.)





Rashes on Face (Usually 2-4 times a year. Past 6 months have not had one.) 


TREATMENT, AS MENTIONED IN THE PRESENTING HISTORY WHICH HAS BEEN RECEIVED TILL NOW:

1. Ribose - orally, 0.2g/kg/day; Taken hourly provides a direct but limited source of energy to cells

2. Creatine Monohydrate

3. Cimetidine - Decreases swelling and Improves Sleep

4. L-serine - Improves Sleep Initiation and Maintainance

5. Triptans - Migraine 

 REFERENCE - Wikipedia                                                  THANK YOU