JANCY KONETI
ROLL NO: 70
This is my attempt to solve a case of 42 year old woman with multiple health problems since birth.
You can find the entire real patient clinical problem in this link
Following is my analysis of the patient's problem:
according to me, problems in order of priority are:
1) left sided weakness
2) swelling over face and abdomen
3) severe migraine attacks with aura
4) sleeplessness
5) oliguria
LEFT SIDED WEAKNESS
- She complained of frequent falls to the left and also her left hand and foot started giving away. There was also left jaw pain up into face
- may be, she has mild right brain injury that is affecting the left side of her body
-also, would like to know whether she had any history of mild or moderate head injury in the past
Investigations:
complete neurological examination
CT brain/spine
MRI brain/spine
SWELLING
she complained of swelling which drastically fluctuates within days. Emotional stress, exercise , smoking and eating wrong food were triggering factors
- since childhood, she had excess salt which might be the reason for swelling or this may
be due to the G6PD deficiency
-G6PD plays an important role in hmp shunt pathway and is also responsible for the production of NADPH. NADPH has the reduction potential in it and it prevents the action of free radicals and other reactive oxygen species that damage cells. since G6PD enzyme is absent in this
case, free radical damage might have occurred in the kidney disturbing the water reabsorption mechanism.
- other symptoms of G6PD deficiency were also present like dark coloured urine, shortness of breath due to decreased effective RBCs
-On taking Cimetidine , her swelling subsided.
Investigations: complete urine examination, ECG
MIGRAINE WITH AURA:
she was suffering from severe headaches since age 2 and they became worse with menses and also while on birth control. This might be suggestive of hormonal migraine
Headaches increased and aura intensified to the point of not just colors obscuring vision, but full getting out of vision. This happened on and off. her vision loss from migraine with aura was less than 2 hours
- she has MTHFR mutation which may also cause migraine with aura. This mutation causes deficiency of methylene tetrahydrofolate reductase enzyme which is necessary for the conversion of toxic homocysteine. Elevated levels of homocysteine might be the reason for her mood disorders. Also, this mutation explains lot of symptoms she has been suffering from. https://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=13&cad=rja&uact=8&ved=2ahUKEwj7qLz-1rjpAhVFxzgGHbzmDYYQFjAMegQIAxAB&url=https%3A%2F%2Fbiostrap.com%2Fblog%2Fmthfr-mutation%2F&usg=AOvVaw3kJe0iSiwwy7c01aQDI1vW
- treatment: tryptans
SLEEPLESSNESS
since birth, she only slept for two to four hours
on taking L-serine, her sleep improved.
-sleeplessness might be due to AMPD1 deficiency or G6PD deficiency
-reasoning: Glycine, an inhibitory neurotransmitter which promotes sleep is deficient due to G6PD deficiency
Investigations: EEG, polysomnography
OTHERS:
-She had many other infections like UTIs, kidney and lung infections(pneumonia) frequently. This might be due to her decreased immunity.
-Multiple times sprained ankle and knee- suggesting osteoarthritis( on genetic testing, showed increased risk for osteoarthriris)
-fatigue might be due to any of the above mentioned causes like G6PD deficiency, MTHFR mutation or AMPD1 deficiency
-she has many genetic mutations which are responsible for all the complications and there is no cure.
treatment of symptoms need to be done lifelong.
