In the Anamnesis is the Diagnosis!
A late night call from the emergency - a 19 year old girl came with complaints of difficulty in breathing. Her Oxygen saturations were about 80 percent (normal is above 98 percent).
Next morning I go for rounds. Patient is sitting comfortably in her bed without oxygen. Doctor-on-duty tells me how she came looking very breathless, but on clinical examination her lungs were clear no evidence of wheezing, her ECG and cardiac examination was normal. Her Oxygen saturations were puzzlingly low, we just gave oxygen and kept her under observation. She improved in about half an hour's time.
I recognised her mother instantly. She was my regular diabetic patient. A household help, extremely hard working trying to get her 3 daughters educated. Patient was her eldest one, she said "I don't know what happened...she complained of tiredness and then she said she couldn't breathe. It happens with her sometimes,then she gets fine. She is better now, can we get her discharged now?"
Then I finally turned to the patient, wondering what is this all about. I felt her gaze was not focussed and told her to describe her symptoms. She said she felt tired very often. She goes to the college and feels exhausted by evening and some days she feels perfectly fine. Last 2 days, she started feeling giddy as if there is no balance and fears falling and suddenly last night she had difficulty in speaking. Speech started to slur and couldn't breathe. Now, she am able to breathe and talk normally. I strongly suspected neurological problem and proceeded with clinical examination. Her clinical examination in particular neurological examination seemed puzzlingly normal. I turned to the mother and told her, we need to do neuroimaging - MRI Brain. Mother instantly replied "We did that 2 months ago when she fell down because of giddiness like this. Neuro surgeon saw her and MRI was done and it was normal, here are the reports". Mother vehemently said, she is fine, she keeps doing this on and off may be purposefully to skip college! I can't spend any money on her treatment.
Her clinical examination was normal, she had slurring of speech, giddiness, breathing difficulty which got better and some symptoms 2 months ago. MRI was normal and I couldn't fit this into anything. Was that a panic attack? But why low oxygen saturations?
Her gaze bothered me though. Her blood investigations were normal. I told her mother that we will watch her some more time. After an hour of my opd and mother's constant pestering for discharge, I just wanted to examine the patient, before I sent her off. I asked her what's up with her gaze? Do you have any difficulty with your vision? She thought for a while and finally she said I can see two things instead of one but that happens sometimes. That's diplopia, then I hurriedly asked so many questions and examined all over again. It was a Binocular Diplopia - double vision in both eyes which rules out any primary eye related problem.
She had double vision, giddiness, slurring of speech, breathing difficulty, fatigue and it would come and go.
I remembered the pictures, I had drawn in my book to understand this condition.
Imagine you want to drink a glass of water which is on a table. The brain sends a signal to your spinal cord, which in turn sends a signal to your nerves. The signals finally reach the nerve endings and get transmitted to your muscles and you finally pick up the glass. This is the mechanism for any voluntary action we want to do. Here is a condition where your brain, nerve, muscle everything is normal. The nerve transmission at the last point is not adequate, because body's immune system has attacked against itself and formed antibodies of the receptors which helps in neurotransmission. What awed me about this condition earlier, was body tries to still transmit the signals, as long as even few receptors are available: That's why patient's are normal most times in between the episodes!!!
The diagnosis: "Myasthenia Gravis"
I remember drawing the above picture in my book to understand.
Myasthenia gravis (MG) is a long-term neuromuscular disease that leads to varying degrees of skeletal muscle weakness. The most commonly affected muscles are those of the eyes, face and swallowing. It can result in double vision, drooping eyelids, trouble talking, and trouble walking. Onset can be sudden. Those affected often have a large thymus or develop a thymoma.
It is an autoimmune disease which results from antibodies that block or destroy nicotinic acetylcholine receptors at the junction between the nerve and muscle. This prevents nerve impulses from triggering muscle contractions.
It is really a diagnostic challenge, since the symptoms are intermittent and complete normal examination between the episodes.
As for my patient, I promptly referred her to the neurologist. She has been started on treatment. Medication consists mainly of acetylcholinesterase inhibitors to directly improve muscle function and immunosuppressant drugs to reduce the autoimmune process. Thymectomy is one of the surgical methods to treat myasthenia gravis.
Isn't our whole life so fragile? One minute we are breathing and next minute we are not sure. It's not easy to give diagnosis of the rare, long term diseases to the patient. It is physically, mentally and financially draining. I hope this patient continues to do well!!
When in doubt, go back to the history. In the anamnesis is the diagnosis!!
Next morning I go for rounds. Patient is sitting comfortably in her bed without oxygen. Doctor-on-duty tells me how she came looking very breathless, but on clinical examination her lungs were clear no evidence of wheezing, her ECG and cardiac examination was normal. Her Oxygen saturations were puzzlingly low, we just gave oxygen and kept her under observation. She improved in about half an hour's time.
I recognised her mother instantly. She was my regular diabetic patient. A household help, extremely hard working trying to get her 3 daughters educated. Patient was her eldest one, she said "I don't know what happened...she complained of tiredness and then she said she couldn't breathe. It happens with her sometimes,then she gets fine. She is better now, can we get her discharged now?"
Then I finally turned to the patient, wondering what is this all about. I felt her gaze was not focussed and told her to describe her symptoms. She said she felt tired very often. She goes to the college and feels exhausted by evening and some days she feels perfectly fine. Last 2 days, she started feeling giddy as if there is no balance and fears falling and suddenly last night she had difficulty in speaking. Speech started to slur and couldn't breathe. Now, she am able to breathe and talk normally. I strongly suspected neurological problem and proceeded with clinical examination. Her clinical examination in particular neurological examination seemed puzzlingly normal. I turned to the mother and told her, we need to do neuroimaging - MRI Brain. Mother instantly replied "We did that 2 months ago when she fell down because of giddiness like this. Neuro surgeon saw her and MRI was done and it was normal, here are the reports". Mother vehemently said, she is fine, she keeps doing this on and off may be purposefully to skip college! I can't spend any money on her treatment.
Her clinical examination was normal, she had slurring of speech, giddiness, breathing difficulty which got better and some symptoms 2 months ago. MRI was normal and I couldn't fit this into anything. Was that a panic attack? But why low oxygen saturations?
Her gaze bothered me though. Her blood investigations were normal. I told her mother that we will watch her some more time. After an hour of my opd and mother's constant pestering for discharge, I just wanted to examine the patient, before I sent her off. I asked her what's up with her gaze? Do you have any difficulty with your vision? She thought for a while and finally she said I can see two things instead of one but that happens sometimes. That's diplopia, then I hurriedly asked so many questions and examined all over again. It was a Binocular Diplopia - double vision in both eyes which rules out any primary eye related problem.
She had double vision, giddiness, slurring of speech, breathing difficulty, fatigue and it would come and go.
I remembered the pictures, I had drawn in my book to understand this condition.
Imagine you want to drink a glass of water which is on a table. The brain sends a signal to your spinal cord, which in turn sends a signal to your nerves. The signals finally reach the nerve endings and get transmitted to your muscles and you finally pick up the glass. This is the mechanism for any voluntary action we want to do. Here is a condition where your brain, nerve, muscle everything is normal. The nerve transmission at the last point is not adequate, because body's immune system has attacked against itself and formed antibodies of the receptors which helps in neurotransmission. What awed me about this condition earlier, was body tries to still transmit the signals, as long as even few receptors are available: That's why patient's are normal most times in between the episodes!!!
The diagnosis: "Myasthenia Gravis"
I remember drawing the above picture in my book to understand.
Myasthenia gravis (MG) is a long-term neuromuscular disease that leads to varying degrees of skeletal muscle weakness. The most commonly affected muscles are those of the eyes, face and swallowing. It can result in double vision, drooping eyelids, trouble talking, and trouble walking. Onset can be sudden. Those affected often have a large thymus or develop a thymoma.
It is an autoimmune disease which results from antibodies that block or destroy nicotinic acetylcholine receptors at the junction between the nerve and muscle. This prevents nerve impulses from triggering muscle contractions.
It is really a diagnostic challenge, since the symptoms are intermittent and complete normal examination between the episodes.
As for my patient, I promptly referred her to the neurologist. She has been started on treatment. Medication consists mainly of acetylcholinesterase inhibitors to directly improve muscle function and immunosuppressant drugs to reduce the autoimmune process. Thymectomy is one of the surgical methods to treat myasthenia gravis.
Isn't our whole life so fragile? One minute we are breathing and next minute we are not sure. It's not easy to give diagnosis of the rare, long term diseases to the patient. It is physically, mentally and financially draining. I hope this patient continues to do well!!
When in doubt, go back to the history. In the anamnesis is the diagnosis!!