Medicine case review
Case of a 42 year old female with multiple health issues.
Presented by: ANJALI YERRABELLY (06)
Present complaints:
*Migraine
*Swelling mostly face and abdomen
*Sleep disturbances
*fatigue
*Increased tolerance to pain
History:
1. MIGRAINE:
Sudden, gradually progressive more on left side head ache started at 2 years of age
* Associated with:
Aura
numbness of left hand and left side of the face
feeling of rotation and spinning while sleeping on left side.
INVESTIGATIONS:
* CT and MRI of brain: brain tumours, stroke, TIA
* CSF analysis: infections
* EEG :seizures
* Magnetic Resonance Angiography:TIA
* Intracranial pressure
TREATMENT:
triptans like sumatriptan
dihydroergotamines
anti nausea medications
2. SWELLING: The patient gave a history of swelling of face and abdomen since she was a 1 year old and continues on and of till date. Triggers factors for edema include emotional stress, exercise, smoke, eating the wrong thing.The patient also gave a history of neonatal jaundice , SOB, dark coloured urine, Possible reason for the edema might be hemolytic crises due to G6PD deficiency for which the patient was diagnosed last year.
INVESTIGATIONS:
•Complete blood count and reticulocyte count
•G6PD enzyme levels
•Lactate dehydrogenase levels
•Indirect and Direct Bilirubin
•Serum Haptoglobulin
•Urinalysis for hematuria
•Urinary Hemosiderin
•Peripheral Blood smear
TREATMENT:
avoid trigger factors
cimetidine
antioxidants diet
oxygen therapy
blood transfusion in extreme cases.
3. SLEEP DISTURBANCES:
Reduced sleep i.e.2 to 4 hrs a day, without REM, for which L-Serine and cimetidine were used and had a better sleep of 7 to 8 hours with REM.
INVESTIGATIONS:
physical exam
sleep habits
sleep study
EEG
TREATMENT:
L-serine - it reversibly converts to glycine which is an inhibitory neurotransmitter and hence helps to induce sleep
4. FATIGUE:
Possible causes :
* AMPD1 deficiency - lack of ATP hence the person gets easily tired.
* Oxidative stress from excess of free radicals because of G6PD deficiency
* Past history shows parents to be chain smokers which increases the oxidative stress.
Treatment given :
* Ribose - helped her too because it provides ATP.
5. INCREASED TOLERANCE TO PAIN:
Since 4 years of age
Associated with frequent falls, ankle fracture.
OTHER ISSUES:
* She had excessive body hair at 3 years which might be because of PCOS. Further she complained of dysmenorrhea, Ectopic pregnancy and Ovarian cysts.
* Increased pain tolerance - WNK1 Hereditary Sensory Neuropathy.
* MTHFR gene - Hyperhomocystinemia
* VWF mutation - bleeding disorders, Menstrual bleeding.
* ANKK1 - ADHD
* Increased risk of infections
Rashes on face(2-4 times a year), along with other issues and at the same time warts and EBV reactived. EBV may explain some of her pre malignant lesions. EBV may cause dermatomyositis which may be responsible for her ankle sprains and skin rash.
Sensory disorder:
clothes and physical contact were unbearable , she had higher pain tolerance, but can't focus on pain.
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
Treatment:
1- Ribose diet
2- L serine for sleep
3- cutting oxidative stress
4.vitamin B complex
5.antioxidant vitamins
6.fructose+antioxdants
7 salt + butter
8.keto diet.
9. iron folate supplemets.
10. antioxidant supplement pycnogenol
11.cimetidine for swelling - tried and helped
12. NAC
Presented by: ANJALI YERRABELLY (06)
Present complaints:
*Migraine
*Swelling mostly face and abdomen
*Sleep disturbances
*fatigue
*Increased tolerance to pain
History:
1. MIGRAINE:
Sudden, gradually progressive more on left side head ache started at 2 years of age
* Associated with:
Aura
numbness of left hand and left side of the face
feeling of rotation and spinning while sleeping on left side.
INVESTIGATIONS:
* CT and MRI of brain: brain tumours, stroke, TIA
* CSF analysis: infections
* EEG :seizures
* Magnetic Resonance Angiography:TIA
* Intracranial pressure
TREATMENT:
triptans like sumatriptan
dihydroergotamines
anti nausea medications
2. SWELLING: The patient gave a history of swelling of face and abdomen since she was a 1 year old and continues on and of till date. Triggers factors for edema include emotional stress, exercise, smoke, eating the wrong thing.The patient also gave a history of neonatal jaundice , SOB, dark coloured urine, Possible reason for the edema might be hemolytic crises due to G6PD deficiency for which the patient was diagnosed last year.
INVESTIGATIONS:
•Complete blood count and reticulocyte count
•G6PD enzyme levels
•Lactate dehydrogenase levels
•Indirect and Direct Bilirubin
•Serum Haptoglobulin
•Urinalysis for hematuria
•Urinary Hemosiderin
•Peripheral Blood smear
TREATMENT:
avoid trigger factors
cimetidine
antioxidants diet
oxygen therapy
blood transfusion in extreme cases.
3. SLEEP DISTURBANCES:
Reduced sleep i.e.2 to 4 hrs a day, without REM, for which L-Serine and cimetidine were used and had a better sleep of 7 to 8 hours with REM.
INVESTIGATIONS:
physical exam
sleep habits
sleep study
EEG
TREATMENT:
L-serine - it reversibly converts to glycine which is an inhibitory neurotransmitter and hence helps to induce sleep
4. FATIGUE:
Possible causes :
* AMPD1 deficiency - lack of ATP hence the person gets easily tired.
* Oxidative stress from excess of free radicals because of G6PD deficiency
* Past history shows parents to be chain smokers which increases the oxidative stress.
Treatment given :
* Ribose - helped her too because it provides ATP.
5. INCREASED TOLERANCE TO PAIN:
Since 4 years of age
Associated with frequent falls, ankle fracture.
OTHER ISSUES:
* She had excessive body hair at 3 years which might be because of PCOS. Further she complained of dysmenorrhea, Ectopic pregnancy and Ovarian cysts.
* Increased pain tolerance - WNK1 Hereditary Sensory Neuropathy.
* MTHFR gene - Hyperhomocystinemia
* VWF mutation - bleeding disorders, Menstrual bleeding.
* ANKK1 - ADHD
* Increased risk of infections
Rashes on face(2-4 times a year), along with other issues and at the same time warts and EBV reactived. EBV may explain some of her pre malignant lesions. EBV may cause dermatomyositis which may be responsible for her ankle sprains and skin rash.
Sensory disorder:
clothes and physical contact were unbearable , she had higher pain tolerance, but can't focus on pain.
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
Treatment:
1- Ribose diet
2- L serine for sleep
3- cutting oxidative stress
4.vitamin B complex
5.antioxidant vitamins
6.fructose+antioxdants
7 salt + butter
8.keto diet.
9. iron folate supplemets.
10. antioxidant supplement pycnogenol
11.cimetidine for swelling - tried and helped
12. NAC
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