Presented by G. Mansa Shambhavi,
Roll number 194.
8th Semester.
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 patient's entire clinical problem in this link here:
My analysis of the patient's problems in order of priority are:
- Swelling, which is confined to face and abdomen.
- Migraine with aura.
- Weakness on the left side.
- Sleeplessness (reduced or absent REM sleep).
- Increased tolerance to pain.
- Oliguria.
An explanation to these symptoms based on the history is given below.
(01.) SWELLING:
The patient gave a history of swelling of face and abdomen from the age of 01 year, which continues till date.
Factors triggering swelling: Emotional stress, smoke, exercise, food like fava beans, medications like sulfur drugs, anti malarial drugs etc.
A plausible reason for this could be Haemolytic crisis due to G6PD deficiency, to which the patient was diagnosed last year.
G6PD deficiency is an X linked recessive disorder that causes glucose-6-phosphate dehydrogenase enzyme to be inadequate in blood.
It is responsible for keeping the red blood cells healthy.
It is also a very important enzyme that regulates various biochemical reactions in the body.
Without adequate levels of this enzyme, breakdown of red blood cells occurs.
It can be triggered by infections, stress, foods like fava beans etc.
The early breakdown of red blood cells is called Haemolysis. This kind of early breakdown of RBCs eventually leads to Haemolytic anemia, which occurs when red blood cells break down faster than the body can replace them.
Edema in G6PD deficiency: Deficiency of G6PD leads to inadequate levels of NADPH and ATP which leads to excessive loss of ions and disturbed water balance, which leads to Edema.
It also causes damage to the kidneys due to NADPH deficiency which causes free radical damage.
Also, as Haemolysis leads to decreased red cell count and reduced oxygen flow to the organs, it causes fatigue, shortness of breath and pale discolouration of skin.
Treatment:
- Avoiding the factors triggering stress.
- Consuming food which has good antioxidant properties.
- Drugs: the patient has been taking Cimetidine 400mg which has markedly reduced the frequency of episodes.
- Oxygen therapy.
- Blood transfusion in severe cases.
(02.) MIGRAINE:
The patient gave a history of severe headaches which began at the age of 02 years old, became very severe around the age of 14 with menses. The episodes became more severe over time.
Eventually, with severe attacks of migraine, her aura intensified and it even lead to loss of vision.
Investigations: Ophthalmoscopic examination, CT and MRI scan.
Treatment:
- Triptans ( 5HT 1B/1D).
- Dihydroergotamines.
- Antiemetic drugs (Ondansetron)
- Intranasal Ketamine reduces the duration of aura symptoms.
- Erenumab, which targets the calcitonin gene related peptide receptor.
(03.) WEAKNESS ON THE LEFT SIDE:
The patient gave history of left sided weakness occurring in the form of frequent falls on the left side and an unbearable feeling of spinning when turning to the left side in sleep.
She experienced numbness of left hand and left side of face (as if someone was pouring cold water on her cheek) during migraine attacks.
Diagnosis:
This could be probably occurring due to muscle weakness caused by AMPD1 deficiency (Adenosine Monophosphate Deaminase-1-Deficiency), or it could also be due to Haemiplegic Migraine.
Investigations: Complete neurological examination.
Treatment: Although there is no cure for AMPD1 deficiency, the use of d-Ribose might provide an additional source of energy to the muscles, though for a short term.
For haemiplegic migraine, NSAIDs and antiemetic medication provide symptomatic relief. Intranasal Ketamine reduces the duration of aura symptoms.
(04.)SLEEPLESSNESS:
The patient has had sleep disturbances from the time she was 01 year old.
She said that she could never sleep for more than 2-3 hours a day; with very reduced or almost absent REM sleep.
Diagnosis: This could be due to G6PD or AMPD1 deficiency.
- Low glycine levels in G6PD deficienchy could cause sleep disturbances.
- Adenosine is an inhibitory neurotransmitter which induces sleep. Therefore, AMPD1 deficiency causes sleep disturbances.
(05.) INCREASED TOLERANCE TO PAIN:
The patient gave history of increased tolerance to pain from the age of 04 years,
which has increased so much that she cannot even localize the pain now.
The probable diagnosis could be CIPA (Congenital Tolerance to Pain with Anhidrosis), which is caused by NTRK1 gene mutation.
Investigations: Genetic testing for CIPA (NRTK1 gene mutation).
(06.) OLIGURIA:
The patient gave history of decreased urination, which increases during fasting.
This could be due to deficiency of NADPH and ATP caused by G6PD deficiency which cause increased loss of ions.
REFERENCES:
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