Case of 42 yr old female with multiple health events since birth.
I have 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
Following is my analysis of this patients problem
* The problems in priority are :-Jaundice at birth associated with other congenital malformations
(Suggests that there may be hemolysis at birth)
*Sleeplessness
(since birth which might have occurred due to G6PD Deficiency or AMPD1 deficiency)
{These diagnoses were suspected based on other symptoms like:
Anaemia, Exacerbation of symptoms after consumption of flava beans and antiviral drugs for G6PD deficiency.
Muscle dysfunction for AMPD1 deficiency.}
Muscle dysfunction for AMPD1 deficiency.}
*Fluctuating Edema
(Overview of G6PD deficiency: https://medlineplus.gov/ency/article/000528.htm)
(Edema was extremely fluctuating within days and trigger points as mentioned by the patient were Emotional stress, Eating wrong food, Exercise in excess, Smoke.
It relieved spontaneously.
Associated with SOB and dark urine.
These features are suggestive of G6PD deficiency which causes damage to the organs like kidney by free radicals because of lack of NADPH.
Also kidney needs a lot of energy for ions active transport and water balance in the body. The Edema have occurred because of excessive loss of ions.
Also the Hemolysis caused because of G6PD deficiency is responsible for fatigue and SOB because of reduced red blood cell count. The same must have been the reason for dark coloured urine also as complained by the patient.)
(Edema was extremely fluctuating within days and trigger points as mentioned by the patient were Emotional stress, Eating wrong food, Exercise in excess, Smoke.
It relieved spontaneously.
Associated with SOB and dark urine.
These features are suggestive of G6PD deficiency which causes damage to the organs like kidney by free radicals because of lack of NADPH.
Also kidney needs a lot of energy for ions active transport and water balance in the body. The Edema have occurred because of excessive loss of ions.
Also the Hemolysis caused because of G6PD deficiency is responsible for fatigue and SOB because of reduced red blood cell count. The same must have been the reason for dark coloured urine also as complained by the patient.)
*Neurological Symptoms
(The patient gave a history of delayed development associated with multiple neurological symptoms of Aggression, Anxiety, Sensory disorders, Severe headaches.
Her neurological symptoms can be attributed to Glycine deficiency due to G6PD deficiency - This might cause cerebral Edema.
Her head aches were preceded by Aura and associated with numbness and vertigo. She had a history of CSF rhinorrhoea.
Oxidative damage to the brain because of depleted NADPH might be responsible.)
(The patient gave a history of delayed development associated with multiple neurological symptoms of Aggression, Anxiety, Sensory disorders, Severe headaches.
Her neurological symptoms can be attributed to Glycine deficiency due to G6PD deficiency - This might cause cerebral Edema.
Her head aches were preceded by Aura and associated with numbness and vertigo. She had a history of CSF rhinorrhoea.
Oxidative damage to the brain because of depleted NADPH might be responsible.)
*Fatigue
(This must have caused directly because of haemolytic anaemia and less red blood cell count.]
AMPD1 deficiency causing muscle weakness because OD decreased aerobic input and increased anaerobic output. Following are some other conditions noticed:
(This must have caused directly because of haemolytic anaemia and less red blood cell count.]
AMPD1 deficiency causing muscle weakness because OD decreased aerobic input and increased anaerobic output. Following are some other conditions noticed:
- 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
- INVESTIGATIONS DONE-1.LFT-AST,ALT levels increased2 ECG-left atrial enlargement,right heart enlargement3.Echocardiography4.Recommended:LDHlevels,serumhaptoglobulin levels,peripheral blood smear.TREATMENT:given cimetidine,ribose,Recommended-blood transfusion,Oxygen therapy.SLEEP DISTURBANCES:G6PD deficiency cause impaired generation of glycine which causes impairement in serotonin level so there are sleep disturbance s.This may be due to AMPD1 deficiency as adenosine inhibitory neurotransmitter is defective.INVESTIGATIONS:EEGTREATMENT:LSerine induces sleep,cimetidine.OLIGURIA:due to G6PD deficiency there is oxidative stress causing kidney damage (reduced production of NADPH &ATP may lead to loss of ions and decreased urine production ).it may be due to WNK1 gene mutation,kidney infections.INVESTIGATIONS:CUE,USGRASHES:she was diagnosed as behcets syndrome which is an autoimmune disorder which causes vasculitis ,rashes ,blurred vision .INVESTIGATIONS :Parthergy test,OCT,skin prick.HEADACHES:migraine with aura is associated with left sided numbness,left sided spinning movement,memory loss,vision loss.Differential diagnosis:Meningitis,encephalitis.Brain tumorsVestibular disordersCerebellar disordersStroke.Investigations :EEG,MRI,CT,CSF analaysis.Treatment:given -triptaminesRecommended- stay in dark room, avoid stress.Drugs which triggers the condition and triptans ,acetamionphen,ergots.FATIGUE:due to G6PD deficiency causes decreased production of ATP .so there is fatigue .Aggravated on exertion and stress.Treatment :ribose which generates ATP.OTHER PROBLEMS :PCOD,Fractures,loss of hair,excessive growth of hair on body ,osteoarthritis anhygrosis (due to WNK1 gene mutation).
