Labels

General Medicine

GENERAL MEDICINE (SHANDILYA 02)
 The problems I found are : 

1)  Swelling of face and abdomen

2) Migraine with Aura

3) Sleeplessness

4) Weakness on the left side

5) Oliguria

6) Fatigue

The reasons for the above problems are:

1) SWELLING OF FACE AND ABDOMEN

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 which suggest a possible hemolytic disorder

Possible reason for the edema might be hemolytic crises due to G6PD deficiency for which the patient was diagnosed last year.

G6PD deficiency is a genetic abnormality that results in an inadequate amount of glucose-6-phosphate dehydrogenase (G6PD) in the blood. This is a very important enzyme (or protein) that regulates various biochemical reactions in the body.G6PD is also responsible for keeping red blood cells healthy so they can function properly and live a normal life span. Without enough of it, red blood cells break down prematurely. This early destruction of red blood cells is known as hemolysis, and it can eventually lead to HEMOLYTIC ANEMIA. Hemolytic anemia develops when red blood cells are destroyed faster than the body can replace them, resulting in reduced oxygen flow to the organs and tissues. This can cause fatigue, yellowing of the skin and eyes, and shortness of breath. 


EDEMA IN G6PD DEFICIENCY: Reduced NADPH levels leads to increased free radical damage to kidney and excessive ion loss and disturbed water balance leading to edema.
ACCORDING TO  HER PAST HISTORY, possible triggers in the patient in the past episodes might have been
  • Antimalarial drugs
  • fava beans
  • sulpha drugs
  • infections

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 (the pt is using 400mg and it has decreased the frequency and severity of episodes )
include sources of antioxidants diet
oxygen therapy and
blood transfusion in extreme cases.

2) MIGRAINE WITH AURA 
 Patient gave a severe history of headaches since she was 2 years old which increased in severity with menses around the age of 14. At age of 15 they were so severe that she couldn't get out of bed
By age 34, episodes and severity of headaches increased and aura intensified to a point of completely out of vision.
Description of aura- starts as a small flicker in the upper left and then eventually becomes a crescent that covers the entire centre of vision.
INVESTIGATIONS:
Eye examination
Head CT scan
MRI
TREATMENT:
triptans like sumatriptan
dihydroergotamines
anti nausea medications 

3) SLEEPLESSNESS:
Since the patient was an year old, sleep was always a problem. It is never more than 2-3 hours a day with nearly no REM sleep at all.
This might be due to G6PD deficiency or AMPD1 deficiency 
  • IN G6PD deficiency, there is impaired production of glycine (inhibitory neurotransmitter )
  •  adenosine can cross the blood–brain barrier and possibly affect cholinergic neurotransmission, resulting in the inhibition of cholinergic neurotransmission in the basal forebrain, inducing sleep and enhancing acetylcholine release in the pons, inducing REM sleep.
Possible influence of AMPD 1 on cholinergic neurotransmission and sleep
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) WEAKNESS ON LEFT SIDE:
The patient currently complains of frequent falls to the left. Left foot and left hand started giving out.
Unbearable feeling of spinning when turned to left. 
Severe cramping of left arm
Sometimes complete loss of function on the left side. 
Numbness of left hand and feeling of someone pouring ice Water over left face during migraine attacks.
  • This might be due to muscle weakness caused my AMPD1 deficiency 
  • Hemiplegic migraine is another probable diagnosis

INVESTIGATIONS:
complete neurological examination 
laboratory investigations: blood work up, for infections, immune mediated diseases etc

5) OLIGURIA
The patient complains of decreased urination which increases during fasting.
This might possibly be due to her G6PD deficiency- due to deficiency of NADPH and ATP there is increased loss of ions ( as both are needed for active absorption of ions )
And hence there is decreased urine output and an increased urge to take in salts due their continuous loss.
6) FATIGUE:
The patient complains of excessive fatigue more severely most exercise.
  • This is due to - in G6PD deficiency, decreased levels of NADPH leads to increased intracellular GSH which inturn increase the cell vulnerability to oxidative stress. 

(Since heart and skeletal muscle have low levels of catalase and superoxide desmutase, they rely mainly on GSH for detoxification of free radicals)

  •  Hence oxidative stress causes myofiber disruption and loss of intracellular proteins, leading to post workout sourness.
  • Anemia is also a cause of fatigue.
  •  AMPD1 Deficiency also causes decreased ATP and muscle weakness.


    TREATMENT:

    Ribose- helps to recover ATP levels and has improved the functional ability of the patient.

    Labels:

    Popular Posts